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3. Cell-free DNA methylome analysis for early preeclampsia prediction

Author

De Borre, Marie, Che, Huiwen, Yu, Qian, Lannoo, Lore, De Ridder, Kobe, Vancoillie, Leen, Dreesen, Pauline, Van Den Ackerveken, Mika, Aerden, Mio, Galle, Eva, Breckpot, Jeroen, Van Keirsbilck, Joachim, Gyselaers, Wilfried, Devriendt, Koen, Vermeesch, Joris Robert, Van Calsteren, Kristel, and Thienpont, Bernard

Published
2023
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4. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Author

Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason, Du, Haowei, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Koenig, Mary Kay, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Liu, Pengfei, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nizon, Mathilde, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Santos Simmaro, Fernando, Sals, Karen, Schieving, Jolanda, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Villavicencio-Lorini, Pablo, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, and Callewaert, Bert

Published
2024
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5. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Author

Cleynen, Isabelle, Engchuan, Worrawat, Hestand, Matthew S, Heung, Tracy, Holleman, Aaron M, Johnston, H Richard, Monfeuga, Thomas, McDonald-McGinn, Donna M, Gur, Raquel E, Morrow, Bernice E, Swillen, Ann, Vorstman, Jacob AS, Bearden, Carrie E, Chow, Eva WC, van den Bree, Marianne, Emanuel, Beverly S, Vermeesch, Joris R, Warren, Stephen T, Owen, Michael J, Chopra, Pankaj, Cutler, David J, Duncan, Richard, Kotlar, Alex V, Mulle, Jennifer G, Voss, Anna J, Zwick, Michael E, Diacou, Alexander, Golden, Aaron, Guo, Tingwei, Lin, Jhih-Rong, Wang, Tao, Zhang, Zhengdong, Zhao, Yingjie, Marshall, Christian, Merico, Daniele, Jin, Andrea, Lilley, Brenna, Salmons, Harold I, Tran, Oanh, Holmans, Peter, Pardinas, Antonio, Walters, James TR, Demaerel, Wolfram, Boot, Erik, Butcher, Nancy J, Costain, Gregory A, Lowther, Chelsea, Evers, Rens, van Amelsvoort, Therese AMJ, van Duin, Esther, Vingerhoets, Claudia, Breckpot, Jeroen, Devriendt, Koen, Vergaelen, Elfi, Vogels, Annick, Crowley, T Blaine, McGinn, Daniel E, Moss, Edward M, Sharkus, Robert J, Unolt, Marta, Zackai, Elaine H, Calkins, Monica E, Gallagher, Robert S, Gur, Ruben C, Tang, Sunny X, Fritsch, Rosemarie, Ornstein, Claudia, Repetto, Gabriela M, Breetvelt, Elemi, Duijff, Sasja N, Fiksinski, Ania, Moss, Hayley, Niarchou, Maria, Murphy, Kieran C, Prasad, Sarah E, Daly, Eileen M, Gudbrandsen, Maria, Murphy, Clodagh M, Murphy, Declan G, Buzzanca, Antonio, Fabio, Fabio Di, Digilio, Maria C, Pontillo, Maria, Marino, Bruno, Vicari, Stefano, Coleman, Karlene, Cubells, Joseph F, Ousley, Opal Y, Carmel, Miri, Gothelf, Doron, Mekori-Domachevsky, Ehud, Michaelovsky, Elena, Weinberger, Ronnie, Weizman, Abraham, Kushan, Leila, Jalbrzikowski, Maria, Armando, Marco, Eliez, Stéphan, Sandini, Corrado, and Schneider, Maude

Subjects
International 22q11.2DS Brain and Behavior Consortium, Prevention, Serious Mental Illness, Genetics, Human Genome, Schizophrenia, Neurosciences, Mental Health, Clinical Research, Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, Mental health, Psychiatry, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences
Abstract

Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in addition to the ~20-fold increased risk conveyed by the 22q11.2 deletion. Using whole-genome sequencing data from 519 unrelated individuals with 22q11.2DS, we conducted genome-wide comparisons of common and rare variants between those with schizophrenia and those with no psychotic disorder at age ≥25 years. Available microarray data enabled direct comparison of polygenic risk for schizophrenia between 22q11.2DS and independent population samples with no 22q11.2 deletion, with and without schizophrenia (total n = 35,182). Polygenic risk for schizophrenia within 22q11.2DS was significantly greater for those with schizophrenia (padj = 6.73 × 10-6). Novel reciprocal case-control comparisons between the 22q11.2DS and population-based cohorts showed that polygenic risk score was significantly greater in individuals with psychotic illness, regardless of the presence of the 22q11.2 deletion. Within the 22q11.2DS cohort, results of gene-set analyses showed some support for rare variants affecting synaptic genes. No common or rare variants within the 22q11.2 deletion region were significantly associated with schizophrenia. These findings suggest that in addition to the deletion conferring a greatly increased risk to schizophrenia, the risk is higher when the 22q11.2 deletion and common polygenic risk factors that contribute to schizophrenia in the general population are both present.

Published
2021

6. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Author

Hsieh, Tzung-Chien, primary, Lesmann, Hellen, additional, Hustinx, Alexander, additional, Moosa, Shahida, additional, Marchi, Elaine, additional, Martin, Maria del Pilar Caro, additional, Abdelrazek, Ibrahim, additional, Pantel, Jean Tori, additional, Klinkhammer, Hannah, additional, Hagen, Merle ten, additional, Thong, Meow-Keong, additional, Mazlan, Rifhan Azwani Binti, additional, Tae, Sok Kun, additional, Kamphans, Tom, additional, Meiswinkel, Wolfgang, additional, Li, Jing-Mei, additional, Javanmardi, Behnam, additional, Knaus, Alexej, additional, Uwineza, Annette, additional, Knopp, Cordula, additional, Tkemaladze, Tinatin, additional, Elbracht, Miriam, additional, Mattern, Larissa, additional, Jamra, Rami Abou, additional, Velmans, Clara, additional, Strehlow, Vincent, additional, Jacob, Maureen, additional, Peron, Angela, additional, Dias, Cristina, additional, Nunes, Beatriz, additional, Vilella, Thainá, additional, Pinheiro, Isabel, additional, Kim, Chong, additional, Melaragno, Maria, additional, Weiland, Hannah, additional, Kaptain, Sophia, additional, Chwiałkowska, Karolina , additional, Kwasniewski, Miroslaw, additional, Saad, Ramy, additional, Wiethoff, Sarah, additional, Goel, Himanshu, additional, Tang, Clara, additional, Hau, Anna, additional, Barakat, Tahsin Stefan, additional, Panek, Przemysław, additional, Nabil, Amira, additional, Suh, Julia, additional, Braun, Frederik, additional, Gomy, Israel, additional, Averdunk, Luisa, additional, Ekure, Ekanem, additional, Bergant, Gaber, additional, Peterlin, Borut, additional, Graziano, Claudio, additional, Gaboon, Nagwa, additional, Fiesco-Roa, Moisés, additional, Spinelli, Alessandro, additional, Wilpert, Nina-Maria, additional, Phowthongkum, Prasit, additional, Güzel, Nergis, additional, Haack, Tobias, additional, Bitar, Rana, additional, Tzschach, Andreas, additional, Rodriguez-Palmero, Agusti, additional, Brunet, Theresa, additional, Rudnik-Schöneborn, Sabine, additional, Contreras-Capetillo, Silvina, additional, Oberlack, Ava, additional, Samango-Sprouse, Carole, additional, Sadeghin, Teresa, additional, Olaya, Margaret, additional, Platzer, Konrad, additional, Borovikov, Artem, additional, Schnabel, Franziska, additional, Heuft, Lara, additional, Herrmann, Vera, additional, Oegema, Renske, additional, Elkhateeb, Nour, additional, Kumar, Sheetal, additional, Komlosi, Katalin, additional, Mohamed, Khoushoua, additional, Kalantari, Silvia, additional, Sirchia, Fabio, additional, Martinez-Monseny, Antonio, additional, Höller, Matthias, additional, Mohamed, Amal, additional, Lasa-Aranzasti, Amaia, additional, Sayer, John, additional, Ehmke, Nadja, additional, Danyel, Magdalena, additional, Sczakiel, Henrike, additional, Schwartzmann, Sarina, additional, Boschann, Felix, additional, Zhao, Max, additional, Adams, Ronja, additional, Einicke, Lara, additional, Horn, Denise, additional, Chew, Kee Seang, additional, Kam, Choy Chen, additional, Karakoyun, Miray, additional, Pode-Shakked, Ben, additional, Eliyahu, Aviva, additional, Rock, Rachel, additional, Carrion, Teresa, additional, Chorin, Odelia, additional, Zarate, Yuri, additional, Martinez, Marcello, additional, Karakaya, Mert, additional, Tung, Moon Ley, additional, Chandra, Bharatendu, additional, Lumaka, Aimé, additional, Shinawi, Marwan, additional, Blackburn, Patrick, additional, Wang, Tianyun, additional, Niehues, Tim, additional, Hu, Ping, additional, Waikel, Rebekah, additional, Hanchard, Suzanna Ledgister, additional, Elmakkawy, Gehad, additional, Safwat, Sylvia, additional, Ebstein, Frédéric, additional, Krüger, Elke, additional, Küry, Sébastien, additional, Bezieau, Stephane, additional, Arlt, Annabelle, additional, Marbach, Felix, additional, Li, Dong, additional, Dupuis, Lucie, additional, Mendoza-Londono, Roberto, additional, Houge, Sofia Douzgou, additional, Weis, Denisa, additional, Chung, Brian, additional, Mak, Christopher, additional, Elcioglu, Nursel, additional, Aykut, Ayca, additional, Şimşek-Kiper, Peli, additional, Bögershausen, Nina, additional, Wollnik, Bernd, additional, Bentzen, Heidi Beate, additional, Kurth, Ingo, additional, Netzer, Christian, additional, Jezela-Stanek, Aleksandra, additional, Devriendt, Koen, additional, Gripp, Karen, additional, Mücke, Martin, additional, Verloes, Alain, additional, Schaaf, Christian, additional, Nellåker, Christoffer, additional, Solomon, Benjamin, additional, Nöthen, Markus, additional, Abdalla, Ebtesam, additional, Lyon, Gholson, additional, Krawitz, Peter, additional, Kayserili, Hulya, additional, Toutouna, Louiza, additional, Schmidt, Axel, additional, Roth, Regina, additional, Wieczorek, Dagmar, additional, and Olinger, Eric, additional

Published
2024
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7. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Author

Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Jr., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, and Weksberg, Rosanna

Published
2022
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8. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age

Author

Freud, Lindsay R., Galloway, Stephanie, Crowley, T. Blaine, Moldenhauer, Julie, Swillen, Ann, Breckpot, Jeroen, Borrell, Antoni, Vora, Neeta L., Cuneo, Bettina, Hoffman, Hilary, Gilbert, Lisa, Nowakowska, Beata, Geremek, Maciej, Kutkowska-Kaźmierczak, Anna, Vermeesch, Joris R., Devriendt, Koen, Busa, Tiffany, Sigaudy, Sabine, Vigneswaran, Trisha, Simpson, John M., Dungan, Jeffrey, Gotteiner, Nina, Gloning, Karl-Philipp, Digilio, Maria Cristina, Unolt, Marta, Putotto, Carolina, Marino, Bruno, Repetto, Gabriela, Fadic, Magdalena, Garcia-Minaur, Sixto, Achón Buil, Ana, Thomas, Mary Ann, Fruitman, Deborah, Beecroft, Taylor, Hui, Pui Wah, Oskarsdottir, Solveig, Bradshaw, Rachael, Criebaum, Amanda, Norton, Mary E., Lee, Tiffany, Geiger, Miwa, Dunnington, Leslie, Isaac, Jacqueline, Wilkins-Haug, Louise, Hunter, Lindsey, Izzi, Claudia, Toscano, Marika, Ghi, Tullio, McGlynn, Julie, Romana Grati, Francesca, Emanuel, Beverly S., Gaiser, Kimberly, Gaynor, J. William, Goldmuntz, Elizabeth, McGinn, Daniel E., Schindewolf, Erica, Tran, Oanh, Zackai, Elaine H., Yan, Qi, Bassett, Anne S., Wapner, Ronald, and McDonald-McGinn, Donna M.

Published
2024
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9. Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome

Author

Vervoort, Lisanne, primary, Dierckxsens, Nicolas, additional, Sousa Santos, Marta, additional, Meynants, Senne, additional, Souche, Erika, additional, Cools, Ruben, additional, Heung, Tracy, additional, Devriendt, Koen, additional, Peeters, Hilde, additional, Mcdonald-mcginn, Donna, additional, Swillen, Ann, additional, Breckpot, Jeroen, additional, Emanuel, Beverly S., additional, Van Esch, Hilde, additional, Bassett, Anne S., additional, and Vermeesch, Joris R., additional

Published
2024
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11. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

Author

Bassett, Anne S, Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Chow, Eva WC, van Amelsvoort, Therese, McDonald-McGinn, Donna, Gur, Raquel E, Swillen, Ann, Van den Bree, Marianne, Murphy, Kieran, Gothelf, Doron, Bearden, Carrie E, Eliez, Stephan, Kates, Wendy, Philip, Nicole, Sashi, Vandana, Campbell, Linda, Vorstman, Jacob, Cubells, Joseph, Repetto, Gabriela M, Simon, Tony, Boot, Erik, Heung, Tracy, Evers, Rens, Vingerhoets, Claudia, van Duin, Esther, Zackai, Elaine, Vergaelen, Elfi, Devriendt, Koen, Vermeesch, Joris R, Owen, Michael, Murphy, Clodagh, Michaelovosky, Elena, Kushan, Leila, Schneider, Maude, Fremont, Wanda, Busa, Tiffany, Hooper, Stephen, McCabe, Kathryn, Duijff, Sasja, Isaev, Karin, Pellecchia, Giovanna, Wei, John, Gazzellone, Matthew J, Scherer, Stephen W, Emanuel, Beverly S, Guo, Tingwei, Morrow, Bernice E, and Marshall, Christian R

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Pediatric, Mental Health, Schizophrenia, Clinical Research, Brain Disorders, Human Genome, Biotechnology, Genetics, Prevention, Serious Mental Illness, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adult, Autism Spectrum Disorder, Autistic Disorder, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 16, DNA Copy Number Variations, DiGeorge Syndrome, Female, Humans, Intellectual Disability, Male, Middle Aged, International 22q11.2DS Brain and Behavior Consortium, 22q11 Deletion Syndrome, Microdeletion, Psychosis, Structural Variants, Velocardiofacial Syndrome, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Clinical and health psychology
Abstract

ObjectiveChromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second hits") that may contribute to schizophrenia expression.MethodThrough an international consortium, the authors obtained DNA samples from 329 psychiatrically phenotyped subjects with 22q11.2DS. Using a high-resolution microarray platform and established methods to assess copy number variation (CNV), the authors compared the genome-wide burden of rare autosomal CNV, outside of the 22q11.2 deletion region, between two groups: a schizophrenia group and those with no psychotic disorder at age ≥25 years. The authors assessed whether genes overlapped by rare CNVs were overrepresented in functional pathways relevant to schizophrenia.ResultsRare CNVs overlapping one or more protein-coding genes revealed significant between-group differences. For rare exonic duplications, six of 19 gene sets tested were enriched in the schizophrenia group; genes associated with abnormal nervous system phenotypes remained significant in a stepwise logistic regression model and showed significant interactions with 22q11.2 deletion region genes in a connectivity analysis. For rare exonic deletions, the schizophrenia group had, on average, more genes overlapped. The additional rare CNVs implicated known (e.g., GRM7, 15q13.3, 16p12.2) and novel schizophrenia risk genes and loci.ConclusionsThe results suggest that additional rare CNVs overlapping genes outside of the 22q11.2 deletion region contribute to schizophrenia risk in 22q11.2DS, supporting a multigenic hypothesis for schizophrenia. The findings have implications for understanding expression of psychotic illness and herald the importance of whole-genome sequencing to appreciate the overall genomic architecture of schizophrenia.

Published
2017

12. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

Author

Guo, Tingwei, Repetto, Gabriela M, McDonald McGinn, Donna M, Chung, Jonathan H, Nomaru, Hiroko, Campbell, Christopher L, Blonska, Anna, Bassett, Anne S, Chow, Eva WC, Mlynarski, Elisabeth E, Swillen, Ann, Vermeesch, Joris, Devriendt, Koen, Gothelf, Doron, Carmel, Miri, Michaelovsky, Elena, Schneider, Maude, Eliez, Stephan, Antonarakis, Stylianos E, Coleman, Karlene, Tomita-Mitchell, Aoy, Mitchell, Michael E, Digilio, M Cristina, Dallapiccola, Bruno, Marino, Bruno, Philip, Nicole, Busa, Tiffany, Kushan-Wells, Leila, Bearden, Carrie E, Piotrowicz, Małgorzata, Hawuła, Wanda, Roberts, Amy E, Tassone, Flora, Simon, Tony J, van Duin, Esther DA, van Amelsvoort, Thérèse A, Kates, Wendy R, Zackai, Elaine, Johnston, H Richard, Cutler, David J, Agopian, AJ, Goldmuntz, Elizabeth, Mitchell, Laura E, Wang, Tao, Emanuel, Beverly S, and Morrow, Bernice E

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Genetics, Rare Diseases, Congenital Structural Anomalies, Clinical Research, Human Genome, Heart Disease, Cardiovascular, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Chromatin, Chromosomes, Human, Pair 5, DiGeorge Syndrome, Genetic Loci, Genome-Wide Association Study, Genotype, High-Throughput Nucleotide Sequencing, Humans, Linkage Disequilibrium, MEF2 Transcription Factors, Oligonucleotide Array Sequence Analysis, Phenotype, Polymorphism, Single Nucleotide, Receptors, G-Protein-Coupled, Sequence Analysis, DNA, Tetralogy of Fallot, chromosomes, DiGeorge syndrome, genotype, ivelo-cardio-facial syndrome, tetralogy of Fallot, International 22q11.2 Consortium/Brain and Behavior Consortium*, Medical Biotechnology, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology
Abstract

The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild to severe. In our cohort of 1472 subjects with 22q11.2DS, a total of 62% (n=906) have congenital heart disease and 36% (n=326) of these have tetralogy of Fallot (TOF), comprising the largest subset of severe congenital heart disease in the cohort. To identify common genetic variants associated with TOF in individuals with 22q11.2DS, we performed a genome-wide association study using Affymetrix 6.0 array and imputed genotype data. In our cohort, TOF was significantly associated with a genotyped single-nucleotide polymorphism (rs12519770, P=2.98×10-8) in an intron of the adhesion GPR98 (G-protein-coupled receptor V1) gene on chromosome 5q14.3. There was also suggestive evidence of association between TOF and several additional single-nucleotide polymorphisms in this region. Some genome-wide significant loci in introns or noncoding regions could affect regulation of genes nearby or at a distance. On the basis of this possibility, we examined existing Hi-C chromatin conformation data to identify genes that might be under shared transcriptional regulation within the region on 5q14.3. There are 6 genes in a topologically associated domain of chromatin with GPR98, including MEF2C (Myocyte-specific enhancer factor 2C). MEF2C is the only gene that is known to affect heart development in mammals and might be of interest with respect to 22q11.2DS. In conclusion, common variants may contribute to TOF in 22q11.2DS and may function in cardiac outflow tract development.

Published
2017

14. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Author

Hsieh, Tzung-Chien, Lesmann, Hellen, Hustinx, Alexander, Moosa, Shahida, Marchi, Elaine, Martin, Maria Del Pilar Caro, Abdelrazek, Ibrahim, Pantel, Jean Tori, Klinkhammer, Hannah, Hagen, Merle Ten, Thong, Meow-Keong, Mazlan, Rifhan Azwani Binti, Tae, Sok Kun, Kamphans, Tom, Meiswinkel, Wolfgang, Javanmardi, Behnam, Knaus, Alexej, Uwineza, Annette, Knopp, Cordula, Tkemaladze, Tinatin, Elbracht, Miriam, Mattern, Larissa, Jamra, Rami Abou, Velmans, Clara, Strehlow, Vincent, Jacob, Maureen, Peron, Angela, Dias, Cristina, Nunes, Beatriz, Vilella, Thainá, Pinheiro, Isabel, Kim, Chong, Melaragno, Maria, Weiland, Hannah, Kaptain, Sophia, Chwiałkowska, Karolina, Kwasniewski, Miroslaw, Saad, Ramy, Wiethoff, Sarah, Goel, Himanshu, Tang, Clara, Hau, Anna, Barakat, Tahsin Stefan, Panek, Przemysław, Nabil, Amira, Suh, Julia, Braun, Frederik, Gomy, Israel, Averdunk, Luisa, Ekure, Ekanem, Bergant, Gaber, Peterlin, Borut, Graziano, Claudio, Gaboon, Nagwa, Fiesco-Roa, Moisés, Spinelli, Alessandro, Wilpert, Nina-Maria, Phowthongkum, Prasit, Güzel, Nergis, Haack, Tobias, Bitar, Rana, Tzschach, Andreas, Rodriguez-Palmero, Agusti, Brunet, Theresa, Rudnik-Schöneborn, Sabine, Contreras-Capetillo, Silvina, Oberlack, Ava, Samango-Sprouse, Carole, Sadeghin, Teresa, Olaya, Margaret, Platzer, Konrad, Borovikov, Artem, Schnabel, Franziska, Heuft, Lara, Herrmann, Vera, Elkhateeb, Nour, Kumar, Sheetal, Komlosi, Katalin, Mohamed, Khoushoua, Kalantari, Silvia, Sirchia, Fabio, Martinez-Monseny, Antonio, Höller, Matthias, Mohamed, Amal, Lasa-Aranzasti, Amaia, Sayer, John, Ehmke, Nadja, Danyel, Magdalena, Sczakiel, Henrike, Schwartzmann, Sarina, Boschann, Felix, Zhao, Max, Adams, Ronja, Einicke, Lara, Chew, Kee Seang, Kam, Choy Chen, Karakoyun, Miray, Pode-Shakked, Ben, Eliyahu, Aviva, Rock, Rachel, Carrion, Teresa, Chorin, Odelia, Zarate, Yuri, Martinez, Marcello, Karakaya, Mert, Tung, Moon Ley, Chandra, Bharatendu, Lumaka, Aimé, Shinawi, Marwan, Blackburn, Patrick, Wang, Tianyun, Niehues, Tim, Hu, Ping, Waikel, Rebekah, Hanchard, Suzanna Ledgister, Elmakkawy, Gehad, Safwat, Sylvia, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bezieau, Stephane, Arlt, Annabelle, Marbach, Felix, Li, Dong, Dupuis, Lucie, Mendoza-Londono, Roberto, Houge, Sofia Douzgou, Weis, Denisa, Mak, Christopher, Elcioglu, Nursel, Aykut, Ayca, Şimşek-Kiper, Peli, Bögershausen, Nina, Wollnik, Bernd, Bentzen, Heidi Beate, Kurth, Ingo, Netzer, Christian, Jezela-Stanek, Aleksandra, Devriendt, Koen, Gripp, Karen, Mücke, Martin, Verloes, Alain, Schaaf, Christian, Nellåker, Christoffer, Solomon, Benjamin, Nöthen, Markus, Abdalla, Ebtesam, Lyon, Gholson, Krawitz, Peter, Kayserili, Hulya, Toutouna, Louiza, Schmidt, Axel, Roth, Regina, Wieczorek, Dagmar, Olinger, Eric, Hsieh, Tzung-Chien, Lesmann, Hellen, Hustinx, Alexander, Moosa, Shahida, Marchi, Elaine, Martin, Maria Del Pilar Caro, Abdelrazek, Ibrahim, Pantel, Jean Tori, Klinkhammer, Hannah, Hagen, Merle Ten, Thong, Meow-Keong, Mazlan, Rifhan Azwani Binti, Tae, Sok Kun, Kamphans, Tom, Meiswinkel, Wolfgang, Javanmardi, Behnam, Knaus, Alexej, Uwineza, Annette, Knopp, Cordula, Tkemaladze, Tinatin, Elbracht, Miriam, Mattern, Larissa, Jamra, Rami Abou, Velmans, Clara, Strehlow, Vincent, Jacob, Maureen, Peron, Angela, Dias, Cristina, Nunes, Beatriz, Vilella, Thainá, Pinheiro, Isabel, Kim, Chong, Melaragno, Maria, Weiland, Hannah, Kaptain, Sophia, Chwiałkowska, Karolina, Kwasniewski, Miroslaw, Saad, Ramy, Wiethoff, Sarah, Goel, Himanshu, Tang, Clara, Hau, Anna, Barakat, Tahsin Stefan, Panek, Przemysław, Nabil, Amira, Suh, Julia, Braun, Frederik, Gomy, Israel, Averdunk, Luisa, Ekure, Ekanem, Bergant, Gaber, Peterlin, Borut, Graziano, Claudio, Gaboon, Nagwa, Fiesco-Roa, Moisés, Spinelli, Alessandro, Wilpert, Nina-Maria, Phowthongkum, Prasit, Güzel, Nergis, Haack, Tobias, Bitar, Rana, Tzschach, Andreas, Rodriguez-Palmero, Agusti, Brunet, Theresa, Rudnik-Schöneborn, Sabine, Contreras-Capetillo, Silvina, Oberlack, Ava, Samango-Sprouse, Carole, Sadeghin, Teresa, Olaya, Margaret, Platzer, Konrad, Borovikov, Artem, Schnabel, Franziska, Heuft, Lara, Herrmann, Vera, Elkhateeb, Nour, Kumar, Sheetal, Komlosi, Katalin, Mohamed, Khoushoua, Kalantari, Silvia, Sirchia, Fabio, Martinez-Monseny, Antonio, Höller, Matthias, Mohamed, Amal, Lasa-Aranzasti, Amaia, Sayer, John, Ehmke, Nadja, Danyel, Magdalena, Sczakiel, Henrike, Schwartzmann, Sarina, Boschann, Felix, Zhao, Max, Adams, Ronja, Einicke, Lara, Chew, Kee Seang, Kam, Choy Chen, Karakoyun, Miray, Pode-Shakked, Ben, Eliyahu, Aviva, Rock, Rachel, Carrion, Teresa, Chorin, Odelia, Zarate, Yuri, Martinez, Marcello, Karakaya, Mert, Tung, Moon Ley, Chandra, Bharatendu, Lumaka, Aimé, Shinawi, Marwan, Blackburn, Patrick, Wang, Tianyun, Niehues, Tim, Hu, Ping, Waikel, Rebekah, Hanchard, Suzanna Ledgister, Elmakkawy, Gehad, Safwat, Sylvia, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bezieau, Stephane, Arlt, Annabelle, Marbach, Felix, Li, Dong, Dupuis, Lucie, Mendoza-Londono, Roberto, Houge, Sofia Douzgou, Weis, Denisa, Mak, Christopher, Elcioglu, Nursel, Aykut, Ayca, Şimşek-Kiper, Peli, Bögershausen, Nina, Wollnik, Bernd, Bentzen, Heidi Beate, Kurth, Ingo, Netzer, Christian, Jezela-Stanek, Aleksandra, Devriendt, Koen, Gripp, Karen, Mücke, Martin, Verloes, Alain, Schaaf, Christian, Nellåker, Christoffer, Solomon, Benjamin, Nöthen, Markus, Abdalla, Ebtesam, Lyon, Gholson, Krawitz, Peter, Kayserili, Hulya, Toutouna, Louiza, Schmidt, Axel, Roth, Regina, Wieczorek, Dagmar, and Olinger, Eric

Abstract

The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted with patients from populations different from their training data. To that end, we systematically analyzed the impact of genetic ancestry on facial dysmorphism. For that purpose, we established the GestaltMatcher Database (GMDB) as a reference dataset for medical images of patients with rare genetic disorders from around the world. We collected 10,980 frontal facial images - more than a quarter previously unpublished - from 8,346 patients, representing 581 rare disorders. Although the predominant ancestry is still European (67%), data from underrepresented populations have been increased considerably via global collaborations (19% Asian and 7% African). This includes previously unpublished reports for more than 40% of the African patients. The NGP analysis on this diverse dataset revealed characteristic performance differences depending on the composition of training and test sets corresponding to genetic relatedness. For clinical use of NGP, incorporating non-European patients resulted in a profound enhancement of GestaltMatcher performance. The top-5 accuracy rate increased by +11.29%. Importantly, this improvement in delineating the correct disorder from a facial portrait was achieved without decreasing the performance on European patients. By design, GMDB complies with the FAIR principles by rendering the curated medical data findable, accessible, interoperable, and reusable. This means GMDB can also serve as data for training and benchmarking. In summary, our study on facial dysmorphism on a global sample revealed a considerable cross ancestral phenotypic variability confounding NGP that should be counteracted by international efforts for increasing data diversity. GMDB wi

Published
2024

16. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

Author

Mlynarski, Elisabeth E, Xie, Michael, Taylor, Deanne, Sheridan, Molly B, Guo, Tingwei, Racedo, Silvia E, McDonald-McGinn, Donna M, Chow, Eva WC, Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J, Roberts, Amy E, Piotrowicz, Małgorzata, Bearden, Carrie E, Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R, Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Goldmuntz, Elizabeth, Bassett, Anne S, Morrow, Bernice E, Emanuel, Beverly S, and International Chromosome 22q11.2 Consortium

Subjects
International Chromosome 22q11.2 Consortium, Chromosomes, Human, Pair 22, Humans, Heart Defects, Congenital, DiGeorge Syndrome, Chromosome Deletion, DNA Copy Number Variations, Genotyping Techniques, Human Genome, Rare Diseases, Heart Disease, Cardiovascular, Pediatric, Clinical Research, Prevention, Genetics, Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Congenital, Genetics & Heredity, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine
Abstract

The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. The phenotypic presentation of 22q11DS is highly variable; approximately 60-75 % of 22q11DS patients have been reported to have a congenital heart defect (CHD), mostly of the conotruncal type, and/or aortic arch defect. The etiology of the cardiac phenotypic variability is not currently known for the majority of patients. We hypothesized that rare copy number variants (CNVs) outside the 22q11.2 deleted region may modify the risk of being born with a CHD in this sensitized population. Rare CNV analysis was performed using Affymetrix SNP Array 6.0 data from 946 22q11DS subjects with CHDs (n = 607) or with normal cardiac anatomy (n = 339). Although there was no significant difference in the overall burden of rare CNVs, an overabundance of CNVs affecting cardiac-related genes was detected in 22q11DS individuals with CHDs. When the rare CNVs were examined with regard to gene interactions, specific cardiac networks, such as Wnt signaling, appear to be overrepresented in 22q11DS CHD cases but not 22q11DS controls with a normal heart. Collectively, these data suggest that CNVs outside the 22q11.2 region may contain genes that modify risk for CHDs in some 22q11DS patients.

Published
2016

18. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Author

Mlynarski, Elisabeth E, Sheridan, Molly B, Xie, Michael, Guo, Tingwei, Racedo, Silvia E, McDonald-McGinn, Donna M, Gai, Xiaowu, Chow, Eva WC, Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J, Roberts, Amy E, Piotrowicz, Małgorzata, Bearden, Carrie E, Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R, Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Shaikh, Tamim H, Bassett, Anne S, Goldmuntz, Elizabeth, Morrow, Bernice E, Emanuel, Beverly S, and Consortium, the International Chromosome 22q11 2

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Rare Diseases, Congenital Structural Anomalies, Genetics, Heart Disease, Clinical Research, Cardiovascular, Prevention, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adult, Aorta, Thoracic, DNA Copy Number Variations, DiGeorge Syndrome, Female, Genotype, Glucose Transporter Type 3, Heart Defects, Congenital, Humans, Male, Polymorphism, Single Nucleotide, International Chromosome 22q11.2 Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect (CHD), mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that copy-number variants (CNVs) outside the 22q11.2 deleted region might increase the risk of being born with a CHD in this sensitized population. Genotyping with Affymetrix SNP Array 6.0 was performed on two groups of subjects with 22q11DS separated by time of ascertainment and processing. CNV analysis was completed on a total of 949 subjects (cohort 1, n = 562; cohort 2, n = 387), 603 with CHDs (cohort 1, n = 363; cohort 2, n = 240) and 346 with normal cardiac anatomy (cohort 1, n = 199; cohort 2, n = 147). Our analysis revealed that a duplication of SLC2A3 was the most frequent CNV identified in the first cohort. It was present in 18 subjects with CHDs and 1 subject without (p = 3.12 × 10(-3), two-tailed Fisher's exact test). In the second cohort, the SLC2A3 duplication was also significantly enriched in subjects with CHDs (p = 3.30 × 10(-2), two-tailed Fisher's exact test). The SLC2A3 duplication was the most frequent CNV detected and the only significant finding in our combined analysis (p = 2.68 × 10(-4), two-tailed Fisher's exact test), indicating that the SLC2A3 duplication might serve as a genetic modifier of CHDs and/or aortic arch anomalies in individuals with 22q11DS.

Published
2015

19. Prenatal versus Postnatal Diagnosis of 22q11.2 Deletion Syndrome: Cardiac and Non-Cardiac Outcomes through 1 Year of Age

Author

Freud, Lindsay R., primary, Galloway, Stephanie, additional, Crowley, T. Blaine, additional, Moldenhauer, Julie, additional, Swillen, Ann, additional, Breckpot, Jeroen, additional, Borrell, Antoni, additional, Vora, Neeta L., additional, Cuneo, Bettina, additional, Hoffman, Hilary, additional, Gilbert, Lisa, additional, Nowakowska, Beata, additional, Geremek, Maciej, additional, Kutkowska-Kaźmierczak, Anna, additional, Vermeesch, Joris R., additional, Devriendt, Koen, additional, Busa, Tiffany, additional, Sigaudy, Sabine, additional, Vigneswaran, Trisha, additional, Simpson, John M., additional, Dungan, Jeffrey, additional, Gotteiner, Nina, additional, Gloning, Karl-Philipp, additional, Digilio, Maria Cristina, additional, Unolt, Marta, additional, Putotto, Carolina, additional, Marino, Bruno, additional, Repetto, Gabriela, additional, Fadic, Magdalena, additional, Garcia-Minaur, Sixto, additional, Buil, Ana Achón, additional, Thomas, Mary Ann, additional, Fruitman, Deborah, additional, Beecroft, Taylor, additional, Hui, Pui Wah, additional, Oskarsdottir, Solveig, additional, Bradshaw, Rachael, additional, Criebaum, Amanda, additional, Norton, Mary E., additional, Lee, Tiffany, additional, Geiger, Miwa, additional, Dunnington, Leslie, additional, Isaac, Jacqueline, additional, Wilkins-Haug, Louise, additional, Hunter, Lindsey, additional, Izzi, Claudia, additional, Toscano, Marika, additional, Ghi, Tullio, additional, McGlynn, Julie, additional, Grati, Francesca Romana, additional, Emanuel, Beverly S., additional, Gaiser, Kimberly, additional, Gaynor, J. William, additional, Goldmuntz, Elizabeth, additional, McGinn, Daniel E., additional, Schindewolf, Erica, additional, Tran, Oanh, additional, Zackai, Elaine H., additional, Yan, Qi, additional, Bassett, Anne, additional, Wapner, Ronald, additional, and McDonald-McGinn, Donna M., additional

Published
2023
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21. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Author

Slavotinek, Anne M, Mehrotra, Pavni, Nazarenko, Irina, Tang, Paul Ling-Fung, Lao, Richard, Cameron, Don, Li, Ben, Chu, Catherine, Chou, Chris, Marqueling, Ann L, Yahyavi, Mani, Cordoro, Kelly, Frieden, Ilona, Glaser, Tom, Prescott, Trine, Morren, Marie-Anne, Devriendt, Koen, Kwok, Pui-yan, Petkovich, Martin, and Desnick, Robert J

Subjects
Congenital Structural Anomalies, Genetics, Biotechnology, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Animals, COS Cells, Chlorocebus aethiops, Cytochrome P-450 Enzyme System, Cytochrome P450 Family 26, DNA Mutational Analysis, Ectodermal Dysplasia, Focal Facial Dermal Dysplasias, Frameshift Mutation, Genetic Association Studies, Humans, Mice, Microsatellite Repeats, Mutation, Missense, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family with two affected siblings. Assuming autosomal recessive inheritance, two novel sequence variants were identified in both siblings in CYP26C1-a duplication of seven base pairs, which was maternally inherited, c.844_851dupCCATGCA, predicting p.Glu284fsX128 and a missense mutation, c.1433G>A, predicting p.Arg478His, that was paternally inherited. The duplication predicted a frameshift mutation that led to a premature stop codon and premature chain termination, whereas the missense mutation was not functional based on its in vitro expression in mammalian cells. The FFDD skin lesions arise along the sites of fusion of the maxillary and mandibular prominences early in facial development, and Cyp26c1 was expressed exactly along the fusion line for these facial prominences in the first branchial arch in mice. Sequencing of four additional, unrelated Type IV FFDD patients and eight Type II or III TWIST2-negative FFDD patients revealed that three of the Type IV patients were homozygous for the duplication, whereas none of the Type II or III patients had CYP26C1 mutations. The seven base pairs duplication was present in 0.3% of healthy controls and 0.3% of patients with other birth defects. These findings suggest that the phenotypic manifestations of FFDD Type IV can be non-penetrant or underascertained. Thus, FFDD Type IV results from the loss of function mutations in CYP26C1.

Published
2013

22. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Author

Frints, Suzanna G. M., Ozanturk, Aysegul, Rodríguez Criado, Germán, Grasshoff, Ute, de Hoon, Bas, Field, Michael, Manouvrier-Hanu, Sylvie, E. Hickey, Scott, Kammoun, Molka, Gripp, Karen W., Bauer, Claudia, Schroeder, Christopher, Toutain, Annick, Mihalic Mosher, Theresa, Kelly, Benjamin J., White, Peter, Dufke, Andreas, Rentmeester, Eveline, Moon, Sungjin, Koboldt, Daniel C, van Roozendaal, Kees E. P., Hu, Hao, Haas, Stefan A., Ropers, Hans-Hilger, Murray, Lucinda, Haan, Eric, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Liebelt, Jan, Hobson, Lynne, De Rademaeker, Marjan, Geraedts, Joep, Fryns, Jean-Pierre, Vermeesch, Joris, Raynaud, Martine, Riess, Olaf, Gribnau, Joost, Katsanis, Nicholas, Devriendt, Koen, Bauer, Peter, Gecz, Jozef, Golzio, Christelle, Gontan, Cristina, and Kalscheuer, Vera M.

Published
2019
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23. Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Author

Khandelwal, Kriti D., van den Boogaard, Marie-José H., Mehrem, Sarah L., Gebel, Jakob, Fagerberg, Christina, van Beusekom, Ellen, van Binsbergen, Ellen, Topaloglu, Ozan, Steehouwer, Marloes, Gilissen, Christian, Ishorst, Nina, van Rooij, Iris A. L. M., Roeleveld, Nel, Christensen, Kaare, Schoenaers, Joseph, Bergé, Stefaan, Murray, Jeffrey C., Hens, Greet, Devriendt, Koen, Ludwig, Kerstin U., Mangold, Elisabeth, Hoischen, Alexander, Zhou, Huiqing, Dötsch, Volker, Carels, Carine E. L., and van Bokhoven, Hans

Published
2019
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25. GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases

Author

Lesmann, Hellen, primary, Hustinx, Alexander, additional, Moosa, Shahida, additional, Marchi, Elaine, additional, Caro, Pilar, additional, Abdelrazek, Ibrahim M., additional, Pantel, Jean Tori, additional, Klinkhammer, Hannah, additional, ten Hagen, Merle, additional, Kamphans, Tom, additional, Meiswinkel, Wolfgang, additional, Li, Jing-Mei, additional, Javanmardi, Behnam, additional, Knaus, Alexej, additional, Uwineza, Annette, additional, Knopp, Cordula, additional, Tkemaladze, Tinatin, additional, Elbracht, Miriam, additional, Mattern, Larissa, additional, Jamra, Rami Abou, additional, Velmans, Clara, additional, Strehlow, Vincent, additional, Goel, Himanshu, additional, Nunes, Beatriz Carvalho, additional, Vilella, Thainá, additional, Pinheiro, Isabel Furquim, additional, Kim, Chong Ae, additional, Melaragno, Maria Isabel, additional, Barakat, Tahsin Stefan, additional, Nabil, Amira, additional, Suh, Julia, additional, Averdunk, Luisa, additional, Ekure, Ekanem, additional, Graziano, Claudio, additional, Phowthongkum, Prasit, additional, Güzel, Nergis, additional, Haack, Tobias B., additional, Brunet, Theresa, additional, Rudnik-Schöneborn, Sabine, additional, Platzer, Konrad, additional, Borovikov, Artem, additional, Schnabel, Franziska, additional, Heuft, Lara, additional, Herrmann, Vera, additional, Martinez-Monseny, Antonio F., additional, Höller, Matthias, additional, Alaaeldin, Khoshoua, additional, Jezela-Stanek, Aleksandra, additional, Mohamed, Amal, additional, Lasa-Aranzasti, Amaia, additional, Sayer, John A., additional, Hu, Ping, additional, Hanchard, Suzanna E. Ledgister, additional, Elmakkawy, Gehad, additional, Safwat, Sylvia, additional, Ebstein, Frédéric, additional, Krüger, Elke, additional, Küry, Sébastien, additional, Arlt, Annabelle, additional, Marbach, Felix, additional, Netzer, Christian, additional, Kaptain, Sophia, additional, Weiland, Hannah, additional, Li, Dong, additional, Dupuis, Lucie, additional, Mendoza-Londono, Roberto, additional, Houge, Sofia Douzgou, additional, Weis, Denisa, additional, Chung, Brian Hon-Yin, additional, Mak, Christopher C.Y., additional, Devriendt, Koen, additional, Gripp, Karen W., additional, Mücke, Martin, additional, Verloes, Alain, additional, Schaaf, Christian P., additional, Nellåker, Christoffer, additional, Solomon, Benjamin D., additional, Waikel, Rebekah L., additional, Nöthen, Markus M., additional, Abdalla, Ebtesam, additional, Lyon, Gholson J., additional, Krawitz, Peter M., additional, and Hsieh, Tzung-Chien, additional

Published
2023
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31. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

Author

Cospain, Auriane, primary, Rivera-Barahona, Ana, additional, Dumontet, Erwan, additional, Gener, Blanca, additional, Bailleul-Forestier, Isabelle, additional, Meyts, Isabelle, additional, Jouret, Guillaume, additional, Isidor, Bertrand, additional, Brewer, Carole, additional, Wuyts, Wim, additional, Moens, Leen, additional, Delafontaine, Selket, additional, Keung Lam, Wayne Wing, additional, Van Den Bogaert, Kris, additional, Boogaerts, Anneleen, additional, Scalais, Emmanuel, additional, Besnard, Thomas, additional, Cogne, Benjamin, additional, Guissard, Christophe, additional, Rollier, Paul, additional, Carre, Wilfrid, additional, Bouvet, Regis, additional, Tarte, Karin, additional, Gómez-Carmona, Ricardo, additional, Lapunzina, Pablo, additional, Odent, Sylvie, additional, Faoucher, Marie, additional, Dubourg, Christele, additional, Ruiz-Pérez, Víctor L., additional, Devriendt, Koen, additional, Pasquier, Laurent, additional, and Pérez-Jurado, Luis A., additional

Published
2022
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32. Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges

Author

Vanakker, Olivier, Vilain, Catheline, Janssens, Katrien, Van der Aa, Nathalie, Smits, Guillaume, Bandelier, Claude, Blaumeiser, Bettina, Bulk, Saskia, Caberg, Jean-Hubert, De Leener, Anne, De Rademaeker, Marjan, de Ravel, Thomy, Desir, Julie, Destree, Anne, Dheedene, Annelies, Gaillez, Stéphane, Grisart, Bernard, Hellin, Ann-Cécile, Janssens, Sandra, Keymolen, Kathelijn, Menten, Björn, Pichon, Bruno, Ravoet, Marie, Revencu, Nicole, Rombout, Sonia, Staessens, Catherine, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris R., Kooy, Frank, Sznajer, Yves, and Devriendt, Koen

Published
2014
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34. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Author

Cuinat, Silvestre, primary, Nizon, Mathilde, additional, Isidor, Bertrand, additional, Stegmann, Alexander, additional, van Jaarsveld, Richard H., additional, van Gassen, Koen L., additional, van der Smagt, Jasper J., additional, Volker-Touw, Catharina M.L., additional, Holwerda, Sjoerd J.B., additional, Terhal, Paulien A., additional, Schuhmann, Sarah, additional, Vasileiou, Georgia, additional, Khalifa, Mohamed, additional, Nugud, Alaa A., additional, Yasaei, Hemad, additional, Ousager, Lilian Bomme, additional, Brasch-Andersen, Charlotte, additional, Deb, Wallid, additional, Besnard, Thomas, additional, Simon, Marleen E.H., additional, Amsterdam, Karin Huijsdens-van, additional, Verbeek, Nienke E., additional, Matalon, Dena, additional, Dykzeul, Natalie, additional, White, Shana, additional, Spiteri, Elizabeth, additional, Devriendt, Koen, additional, Boogaerts, Anneleen, additional, Willemsen, Marjolein, additional, Brunner, Han G., additional, Sinnema, Margje, additional, De Vries, Bert B.A., additional, Gerkes, Erica H., additional, Pfundt, Rolph, additional, Izumi, Kosuke, additional, Krantz, Ian D., additional, Xu, Zhou L., additional, Murrell, Jill R., additional, Valenzuela, Irene, additional, Cusco, Ivon, additional, Rovira-Moreno, Eulàlia, additional, Yang, Yaping, additional, Bizaoui, Varoona, additional, Patat, Olivier, additional, Faivre, Laurence, additional, Tran-Mau-Them, Frederic, additional, Vitobello, Antonio, additional, Denommé-Pichon, Anne-Sophie, additional, Philippe, Christophe, additional, Bezieau, Stéphane, additional, and Cogné, Benjamin, additional

Published
2022
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35. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

Author

Generalitat de Catalunya, Cospain, Auriane, Rivera-Barahona, Ana, Dumontet, Erwan, Gener, Blanca, Bailleul-Forestier, Isabelle, Meyts, Isabelle, Jouret, Guillaume, Isidor, Bertrand, Brewer, Carole, Wuyts, Wim, Moens, Leen, Delafontaine, Selket, Wing Keung Lam, Wayne, Van Den Bogaert, Kris, Boogaerts, Anneleen, Scalais, Emmanuel, Besnard, Thomas, Cogne, Benjamin, Guissard, Christophe, Rollier, Paul, Carre, Wilfrid, Bouvet, Regis, Tarte, Karin, Gómez Carmona, Ricardo, Lapunzina, Pablo, Odent, Sylvie, Faoucher, Marie, Dubourg, Christele, Ruiz-Pérez, Victor L., Devriendt, Koen, Pasquier, Laurent, Pérez-Jurado, Luis Alberto, Generalitat de Catalunya, Cospain, Auriane, Rivera-Barahona, Ana, Dumontet, Erwan, Gener, Blanca, Bailleul-Forestier, Isabelle, Meyts, Isabelle, Jouret, Guillaume, Isidor, Bertrand, Brewer, Carole, Wuyts, Wim, Moens, Leen, Delafontaine, Selket, Wing Keung Lam, Wayne, Van Den Bogaert, Kris, Boogaerts, Anneleen, Scalais, Emmanuel, Besnard, Thomas, Cogne, Benjamin, Guissard, Christophe, Rollier, Paul, Carre, Wilfrid, Bouvet, Regis, Tarte, Karin, Gómez Carmona, Ricardo, Lapunzina, Pablo, Odent, Sylvie, Faoucher, Marie, Dubourg, Christele, Ruiz-Pérez, Victor L., Devriendt, Koen, Pasquier, Laurent, and Pérez-Jurado, Luis Alberto

Abstract

[Purpose]: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex., [Methods]: Exome sequencing was used to identify genetic variants in all cases, recruited through Matchmaker exchange. Gene expression in blood was analyzed using reverse transcription polymerase chain reaction. In vitro coimmunoprecipitation and proteasome inhibition assays in transfected HEK293 cells were performed to explore protein and AP-1 complex stability., [Results]: We identified 11 individuals from 10 families with mostly de novo truncating FOSL2 variants sharing a strikingly similar phenotype characterized by prenatal growth retardation, localized cutis scalp aplasia with or without skull defects, neurodevelopmental delay with autism spectrum disorder, enamel hypoplasia, and congenital cataracts. Mutant FOSL2 messenger RNAs escaped nonsense-mediated messenger RNA decay. Truncated FOSL2 interacts with c-JUN, thus mutated AP-1 complexes could be formed., [Conclusion]: Truncating variants in the last exon of FOSL2 associate a distinct clinical phenotype by altering the regulatory degradation of the AP-1 complex. These findings reveal a new role for FOSL2 in human pathology.

Published
2022

36. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Author

Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Circulatory Health, Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Stegmann, Alexander, van Jaarsveld, Richard H, van Gassen, Koen L, van der Smagt, Jasper J, Volker-Touw, Catharina M L, Holwerda, Sjoerd J B, Terhal, Paulien A, Schuhmann, Sarah, Vasileiou, Georgia, Khalifa, Mohamed, Nugud, Alaa A, Yasaei, Hemad, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Deb, Wallid, Besnard, Thomas, Simon, Marleen E H, Amsterdam, Karin Huijsdens-van, Verbeek, Nienke E, Matalon, Dena, Dykzeul, Natalie, White, Shana, Spiteri, Elizabeth, Devriendt, Koen, Boogaerts, Anneleen, Willemsen, Marjolein, Brunner, Han G, Sinnema, Margje, De Vries, Bert B A, Gerkes, Erica H, Pfundt, Rolph, Izumi, Kosuke, Krantz, Ian D, Xu, Zhou L, Murrell, Jill R, Valenzuela, Irene, Cusco, Ivon, Rovira-Moreno, Eulàlia, Yang, Yaping, Bizaoui, Varoona, Patat, Olivier, Faivre, Laurence, Tran-Mau-Them, Frederic, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Philippe, Christophe, Bezieau, Stéphane, Cogné, Benjamin, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Circulatory Health, Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Stegmann, Alexander, van Jaarsveld, Richard H, van Gassen, Koen L, van der Smagt, Jasper J, Volker-Touw, Catharina M L, Holwerda, Sjoerd J B, Terhal, Paulien A, Schuhmann, Sarah, Vasileiou, Georgia, Khalifa, Mohamed, Nugud, Alaa A, Yasaei, Hemad, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Deb, Wallid, Besnard, Thomas, Simon, Marleen E H, Amsterdam, Karin Huijsdens-van, Verbeek, Nienke E, Matalon, Dena, Dykzeul, Natalie, White, Shana, Spiteri, Elizabeth, Devriendt, Koen, Boogaerts, Anneleen, Willemsen, Marjolein, Brunner, Han G, Sinnema, Margje, De Vries, Bert B A, Gerkes, Erica H, Pfundt, Rolph, Izumi, Kosuke, Krantz, Ian D, Xu, Zhou L, Murrell, Jill R, Valenzuela, Irene, Cusco, Ivon, Rovira-Moreno, Eulàlia, Yang, Yaping, Bizaoui, Varoona, Patat, Olivier, Faivre, Laurence, Tran-Mau-Them, Frederic, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Philippe, Christophe, Bezieau, Stéphane, and Cogné, Benjamin

Published
2022

46. Chromosomal phenotypes and submicroscopic abnormalities

Author

Devriendt Koen and Vermeesch Joris R

Subjects
microdeletion, low copy repeat, syndrome, microarray, Medicine, Genetics, QH426-470
Abstract

Abstract The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/duplicated region, abnormal dosage of genes located within these regions can explain the phenotypic similarities among individuals with a specific syndrome. As such, they provide a unique resource towards the genetic dissection of complex phenotypes such as congenital heart defects, mental and growth retardation and abnormal behaviour. In addition, the study of phenotypic differences in individuals with the same microdeletion syndrome may also become a treasury for the identification of modifying factors for complex phenotypes. The molecular analysis of these chromosomal anomalies has led to a growing understanding of their mechanisms of origin. Novel tools to uncover additional submicroscopic chromosomal anomalies at a higher resolution and higher speed, as well as the novel tools at hand for deciphering the modifying factors and epistatic interactors, are 'on the doorstep' and will, besides their obvious diagnostic role, play a pivotal role in the genetic dissection of complex phenotypes.

Published
2004
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49. The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

Author

Vandewalle, Joke, Bauters, Marijke, Van Esch, Hilde, Belet, Stefanie, Verbeeck, Jelle, Fieremans, Nathalie, Holvoet, Maureen, Vento, Jodie, Spreiz, Ana, Kotzot, Dieter, Haberlandt, Edda, Rosenfeld, Jill, Andrieux, Joris, Delobel, Bruno, Dehouck, Marie-Bertille, Devriendt, Koen, Fryns, Jean-Pierre, Marynen, Peter, Goldstein, Amy, and Froyen, Guy

Published
2013
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