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1. RNA variant assessment using transactivation and transdifferentiation

Author

Azmanov, Dimitar N., Barnett, Christopher P., Barry, Simon C., Baynam, Gareth, Berkovic, Samuel F., Christodoulou, John, Coman, David J., Cooper, Sandra, Corbett, Mark A., Delatycki, Martin, Dudding, Tracy E., Fletcher, Sue, Gardner, Alison E., Gecz, Jozef, Higgins, Megan J., Hildebrand, Michael S., Jolly, Lachlan A., Lister, Ryan, McGaughran, Julie, Pflueger, Christian, Poulton, Cathryn, Roscioli, Tony, Hamish S. Scott, Ingrid Scheffer, Sinclair, Andrew H., Spurdle, Amanda B., Tan, Tiong Y., van Eyk, Clare L., Voineagu, Irina, Nicolas-Martinez, Emmylou C., Robinson, Olivia, Gardner, Alison, Ritchie, Tarin, Kroes, Thessa, Scheffer, Ingrid E., Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett G., Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard I., Evesson, Frances J., Jones, Kristi J., and Cooper, Sandra T.

Published
2024
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2. A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

Author

Ades, Lesley, Enriquez, Annabel, McLean, Alison, Smyth, Renee, Alankarage, Dimithu, Fatkin, Diane, McNamara, James, Soka, Magdalena, Morgan almog, Fear, Vanessa, Medi, Caroline, Stark, Zornitza, Al-Shinnag, Mohammad, Fine, Miriam, Metke, Alejandro, Sy, Raymond, Atherton, John J., Finlay, Keri, Milnes, Di, Tang, Dotti, Austin, Rachel, Garza, Denisse, Milward, Michael, Taylor, Jessica, Bagnall, Richard D., Giannoulatou, Eleni, Morrish, Ansley, Taylor, Shelby, Barnett, Chris, Gongolidis, Laura, Morwood, Jim, Tchan, Michel, Blue, Gillian M., Gray, Belinda, Mountain, Helen, Thompson, Tina, Bodek, Simon, Greer, Cassie, Mowat, David, Thorpe, Jordan, Boggs, Kirsten, Haan, Eric, Ng, Chai-Ann, Trainer, Alison, Bogwitz, Michael, Haas, Mathilda, Nowak, Natalie, Trivedi, Gunjan, Boughtwood, Tiffany, Hanna, Bernadette, Martinez, Noelia Nunez, Valente, Giulia, Bray, Alessandra, Harvey, Richard, Ohanian, Monique, van Spaendonck-Zwarts, Karin, Brion, Marie-Jo, Hayward, Janette, O’Sullivan, Sinead, Vandenberg, Jamie, Brown, Jaye, Herrera, Carmen, Overkov, Angela, Verma, Kunal, Richardson, Rob Bryson, Hill, Adam, Pachter, Nicholas, Vidgen, Miranda, Burnett, Leslie, Hollingsworth, Georgie, Patel, Chirag, Vohra, Jitendra, Burns, Charlotte, Hollway, Georgina, Perrin, Mark, Waddel-Smith, Kathryn, Cao, Michelle, Horton, Ari E., Perry, Matthew, Wallis, Mathew, Carr, Will, Howting, Denise, Pflaumer, Andreas, Weintraub, Robert G., Casauria, Sarah, Ingles, Jodie, Phillips, Peta, Wilson, Meredith, Chalinor, Heather, Isbister, Joanne, Phuong, Thuan, Winlaw, David, Chang, Yuchen, Jackson, Matilda, Pope-Couston, Rachel, Worgan, Lisa, Chapman, Gavin, James, Paul, Poplawski, Nicola K., Wornham, Linda, Charitou, Theosodia, Jane-Pantaleo, Sarah, Punni, Preeti, Wu, Kathy, Chong, Belinda, Johnson, Renee, Quinn, Michael C.J., Yeates, Laura, Collins, Felicity, Kelly, Andrew, Quinn, Michael, Zentner, Dominica, Correnti, Gemma, King-Smith, Sarah, Rajagopalan, Sulekha, Cox, Kathy, Kirk, Edwin, Raju, Hariharan, Cunningham, Fiona, Kummerfeld, Sarah, Rath, Emma M., Das, Debjani, Lassman, Timo, Regan, Matthew, Davis, Jason, Lipton, Jonathon, Rogers, Jonathan, Davis, Andrew, Lunke, Sebastian, Ryan, Mark, De Fazio, Paul, Macciocca, Ivan, Sandaradura, Sarah, de Silva, Michelle, MacIntyre, Paul, Schonrock, Nicole, Den Elzen, Nicola, Madelli, Evanthia O., Scuffham, Paul, Devery, Sophie, Mallawaarachchi, Amali, Semsarian, Chris, Dobbins, Julia, Mansour, Julia, Sherburn, Isabella, Dunwoodie, Sally L., Martin, Ellenore, Sherlock, Mary-Clare, Dwyer, Nathan, Mathew, Jacob, Singer, Emma, Elbracht-Leong, Stefanie, Mattiske, Tessa, Smerdon, Carla, Elliott, David, McGaughran, Julie, Smith, Janine, Brown, Jaye S., Haas, Matilda, and Pantaleo, Sarah-Jane

Published
2024
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3. Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services

Author

Best, Stephanie, primary, Fehlberg, Zoe, additional, Richards, Christopher, additional, Quinn, Michael C. J., additional, Lunke, Sebastian, additional, Spurdle, Amanda B., additional, Kassahn, Karin S., additional, Patel, Chirag, additional, Vears, Danya F., additional, Goranitis, Ilias, additional, Lynch, Fiona, additional, Robertson, Alan, additional, Tudini, Emma, additional, Christodoulou, John, additional, Scott, Hamish, additional, McGaughran, Julie, additional, and Stark, Zornitza, additional

Published
2024
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4. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Author

Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R, Sanders, Stephan J, Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S, Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H, Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T, Humberson, Jennifer B, Robak, Laurie, Scott, Daryl A, Sutton, Vernon R, Skraban, Cara M, Johnston, Jennifer J, Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H, Bongers, Ernie MHF, Gilissen, Christian, Zarate, Yuri A, Kvarnung, Malin, Lally, Kevin P, Kulch, Peggy A, Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, McGaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine R, Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M, Klee, Eric W, Sapp, Julie C, Zyskind, Jacob, Holla, Øystein L, Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L, Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N, Dewan, Tammie, Coban Akdemir, Zeynep H, Telegrafi, Aida, Zackai, Elaine H, Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M, Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, CAUSES Study, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine I, Pichurin, Pavel N, Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L, Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie G, Lowenstein, Dan, Posey, Jennifer E, and Denommé-Pichon, Anne-Sophie

Subjects
CAUSES Study, Deciphering Developmental Disorders study, Humans, Syndrome, Adaptor Proteins, Signal Transducing, Nuclear Proteins, Prognosis, Autistic Disorder, Amino Acid Sequence, Sequence Homology, Mutation, Missense, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Genetic Association Studies, Intellectual Disability, TRRAP, autism spectrum disorder, congenital malformations, de novo variants, histone acetylation, intellectual disability, neurodevelopmental disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Neurosciences, Mental Health, Autism, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Mental health, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are recruited to chromatin by the scaffolding subunit transformation/transcription domain-associated protein (TRRAP). TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning; a number of affected individuals have intellectual disability (ID) and markedly impaired basic life functions. Individuals with this phenotype had missense variants clustering around the c.3127G>A p.(Ala1043Thr) variant identified in five individuals. The second spectrum manifested with autism spectrum disorder (ASD) and/or ID and epilepsy. Facial dysmorphism was seen in both groups and included upslanted palpebral fissures, epicanthus, telecanthus, a wide nasal bridge and ridge, a broad and smooth philtrum, and a thin upper lip. RNA sequencing analysis of skin fibroblasts derived from affected individuals skin fibroblasts showed significant changes in the expression of several genes implicated in neuronal function and ion transport. Thus, we describe here the clinical spectrum associated with TRRAP pathogenic missense variants, and we suggest a genotype-phenotype correlation useful for clinical evaluation of the pathogenicity of the variants.

Published
2019

7. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Author

Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, and Banka, Siddharth

Published
2021
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8. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

Author

Kirk, Edwin P., Ong, Royston, Boggs, Kirsten, Hardy, Tristan, Righetti, Sarah, Kamien, Ben, Roscioli, Tony, Amor, David J., Bakshi, Madhura, Chung, Clara W. T., Colley, Alison, Jamieson, Robyn V., Liebelt, Jan, Ma, Alan, Pachter, Nicholas, Rajagopalan, Sulekha, Ravine, Anja, Wilson, Meredith, Caruana, Jade, Casella, Rachael, Davis, Mark, Edwards, Samantha, Archibald, Alison, McGaughran, Julie, Newson, Ainsley J., Laing, Nigel G., and Delatycki, Martin B.

Published
2021
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9. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Author

Koolen, David A, Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E, Conta, Jessie H, Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A, Winesett, Heather M, Chung, Wendy K, Dalton, Marguerite, Dimova, Petia S, Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z, Saal, Howard M, Hehir-Kwa, Jayne Y, Willemsen, Marjolein H, Ockeloen, Charlotte W, Jongmans, Marjolijn C, Van der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S, Kant, Sarina G, Gerkes, Erica H, Firth, Helen V, Õunap, Katrin, Bird, Lynne M, Masser-Frye, Diane, Friedman, Jennifer R, Sokunbi, Modupe A, Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K, McGaughran, Julie, Coe, Bradley P, Flórez, Jesús, Nadif Kasri, Nael, Brunner, Han G, Thompson, Elizabeth M, Gecz, Jozef, Romano, Corrado, Eichler, Evan E, and de Vries, Bert BA

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Pediatric, Neurosciences, Congenital Structural Anomalies, Brain Disorders, Clinical Research, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Adolescent, Adult, Child, Chromosome Deletion, Chromosomes, Human, Pair 17, Female, Humans, Intellectual Disability, Male, Middle Aged, Nuclear Proteins, Phenotype, Polymorphism, Single Nucleotide, DDD Study, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. The syndrome is caused by a truncating variant in the KAT8 regulatory NSL complex unit 1 (KANSL1) gene or by a 17q21.31 microdeletion encompassing KANSL1. Herein we describe a novel cohort of 45 individuals with KdVS of whom 33 have a 17q21.31 microdeletion and 12 a single-nucleotide variant (SNV) in KANSL1 (19 males, 26 females; age range 7 months to 50 years). We provide guidance about the potential pitfalls in the laboratory testing and emphasise the challenges of KANSL1 variant calling and DNA copy number analysis in the complex 17q21.31 region. Moreover, we present detailed phenotypic information, including neuropsychological features, that contribute to the broad phenotypic spectrum of the syndrome. Comparison of the phenotype of both the microdeletion and SNV patients does not show differences of clinical importance, stressing that haploinsufficiency of KANSL1 is sufficient to cause the full KdVS phenotype.

Published
2016

11. TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy.

Author

Yuchen Chang, Wacker, Julie, Ingles, Jodie, Macciocca, Ivan, King, Ingrid, Semsarian, Christopher, McGaughran, Julie, Weintraub, Robert G., and Bagnall, Richard D.

Abstract

TBX20 encodes a cardiac transcription factor that is associated with atrial septal defects. Recent studies implicate loss-of-function TBX20 variants with left ventricular non-compaction cardiomyopathy (LVNC), although clinical and genetic data in families are limited. We report four families with TBX20 loss-of-function variants that segregate with LVNC. Genetic testing using genome or exome sequencing was performed in index cases, variants were validated with Sanger sequencing, and cascade genetic testing was performed in family members. A multi-exon deletion, small deletion, essential splice site variant and nonsense variant in TBX20 were found in four families. The index cases in two families were symptomatic children with identical congenital heart diseases and LVNC who developed different cardiomyopathy phenotypes with one developing heart failure requiring transplantation. In another family, the child index case had LVNC and congestive heart failure requiring heart transplantation. In the fourth family, the index case was a symptomatic adult with LVNC. In all families, the variants segregated in relatives with isolated LVNC, or with congenital heart disease or cardiomyopathy. Family members displayed a clinical spectrum from asymptomatic to severe presentations including heart failure. Our data strengthen TBX20 loss-of-function variants as a rare cause of LVNC and support TBX20 inclusion in genetic testing of LVNC. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Author

Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul CM, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa MJ, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun‐Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme CM, and Biesecker, Leslie G

Subjects
Genetics, Dental/Oral and Craniofacial Disease, Pediatric, Clinical Research, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Craniofacial Abnormalities, Genotype, Humans, Kruppel-Like Transcription Factors, Mouth Abnormalities, Mutation, Nerve Tissue Proteins, Pallister-Hall Syndrome, Phenotype, Polydactyly, Syndactyly, Zinc Finger Protein Gli3, GLI3, Greig syndrome, Pallister-Hall syndrome, oral-facial-digital syndrome, Clinical Sciences, Genetics & Heredity
Abstract

A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria.

Published
2010

15. Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

Author

Stark, Zornitza, primary, Boughtwood, Tiffany, additional, Haas, Matilda, additional, Braithwaite, Jeffrey, additional, Gaff, Clara L., additional, Goranitis, Ilias, additional, Spurdle, Amanda B., additional, Hansen, David P., additional, Hofmann, Oliver, additional, Laing, Nigel, additional, Metcalfe, Sylvia, additional, Newson, Ainsley J., additional, Scott, Hamish S., additional, Thorne, Natalie, additional, Ward, Robyn L., additional, Dinger, Marcel E., additional, Best, Stephanie, additional, Long, Janet C., additional, Grimmond, Sean M., additional, Pearson, John, additional, Waddell, Nicola, additional, Barnett, Christopher P., additional, Cook, Matthew, additional, Field, Michael, additional, Fielding, David, additional, Fox, Stephen B., additional, Gecz, Jozef, additional, Jaffe, Adam, additional, Leventer, Richard J., additional, Lockhart, Paul J., additional, Lunke, Sebastian, additional, Mallett, Andrew J., additional, McGaughran, Julie, additional, Mileshkin, Linda, additional, Nones, Katia, additional, Roscioli, Tony, additional, Scheffer, Ingrid E., additional, Semsarian, Christopher, additional, Simons, Cas, additional, Thomas, David M., additional, Thorburn, David R., additional, Tothill, Richard, additional, White, Deborah, additional, Dunwoodie, Sally, additional, Simpson, Peter T., additional, Phillips, Peta, additional, Brion, Marie-Jo, additional, Finlay, Keri, additional, Quinn, Michael CJ., additional, Mattiske, Tessa, additional, Tudini, Emma, additional, Boggs, Kirsten, additional, Murray, Sean, additional, Wells, Kathy, additional, Cannings, John, additional, Sinclair, Andrew H., additional, Christodoulou, John, additional, and North, Kathryn N., additional

Published
2023
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16. TBX20loss-of-function variants in families with left ventricular non-compaction cardiomyopathy

Author

Chang, Yuchen, Wacker, Julie, Ingles, Jodie, Macciocca, Ivan, King, Ingrid, Semsarian, Christopher, McGaughran, Julie, Weintraub, Robert G, and Bagnall, Richard D

Abstract

TBX20encodes a cardiac transcription factor that is associated with atrial septal defects. Recent studies implicate loss-of-function TBX20variants with left ventricular non-compaction cardiomyopathy (LVNC), although clinical and genetic data in families are limited. We report four families with TBX20loss-of-function variants that segregate with LVNC. Genetic testing using genome or exome sequencing was performed in index cases, variants were validated with Sanger sequencing, and cascade genetic testing was performed in family members. A multi-exon deletion, small deletion, essential splice site variant and nonsense variant in TBX20were found in four families. The index cases in two families were symptomatic children with identical congenital heart diseases and LVNC who developed different cardiomyopathy phenotypes with one developing heart failure requiring transplantation. In another family, the child index case had LVNC and congestive heart failure requiring heart transplantation. In the fourth family, the index case was a symptomatic adult with LVNC. In all families, the variants segregated in relatives with isolated LVNC, or with congenital heart disease or cardiomyopathy. Family members displayed a clinical spectrum from asymptomatic to severe presentations including heart failure. Our data strengthen TBX20loss-of-function variants as a rare cause of LVNC and support TBX20inclusion in genetic testing of LVNC.

Published
2024
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19. Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Author

Sobering, Andrew K., primary, Bryant, Laura M., additional, Li, Dong, additional, McGaughran, Julie, additional, Maystadt, Isabelle, additional, Moortgat, Stephanie, additional, Graham, John M., additional, van Haeringen, Arie, additional, Ruivenkamp, Claudia, additional, Cuperus, Roos, additional, Vogt, Julie, additional, Morton, Jenny, additional, Brasch-Andersen, Charlotte, additional, Steenhof, Maria, additional, Hansen, Lars Kjærsgaard, additional, Adler, Élodie, additional, Lyonnet, Stanislas, additional, Pingault, Veronique, additional, Sandrine, Marlin, additional, Ziegler, Alban, additional, Donald, Tyhiesia, additional, Nelson, Beverly, additional, Holt, Brandon, additional, Petryna, Oleksandra, additional, Firth, Helen, additional, McWalter, Kirsty, additional, Zyskind, Jacob, additional, Telegrafi, Aida, additional, Juusola, Jane, additional, Person, Richard, additional, Bamshad, Michael J., additional, Earl, Dawn, additional, Chun-Hui Tsai, Anne, additional, Yearwood, Katherine R., additional, Marco, Elysa, additional, Nowak, Catherine, additional, Douglas, Jessica, additional, Hakonarson, Hakon, additional, and Bhoj, Elizabeth J., additional

Published
2023
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20. A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation

Author

Vermeer, Mathilde C.S.C., primary, Al-Shinnag, Mohammad, additional, Silljé, Herman H.W., additional, Gaytan, Antonio Esquivel, additional, Murrell, Dedee F., additional, McGaughran, Julie, additional, Melbourne, Wei, additional, Cowan, Timothy, additional, van den Akker, Peter C., additional, van Spaendonck-Zwarts, Karin Y., additional, van der Meer, Peter, additional, and Bolling, Maria C., additional

Published
2022
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23. Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Author

Sobering, Andrew K., primary, Bryant, Laura M., additional, Li, Dong, additional, McGaughran, Julie, additional, Maystadt, Isabelle, additional, Moortgat, Stephanie, additional, Graham, John M., additional, van Haeringen, Arie, additional, Ruivenkamp, Claudia, additional, Cuperus, Roos, additional, Vogt, Julie, additional, Morton, Jenny, additional, Brasch-Andersen, Charlotte, additional, Steenhof, Maria, additional, Hansen, Lars Kjærsgaard, additional, Adler, Élodie, additional, Lyonnet, Stanislas, additional, Pingault, Veronique, additional, Sandrine, Marlin, additional, Ziegler, Alban, additional, Donald, Tyhiesia, additional, Nelson, Beverly, additional, Holt, Brandon, additional, Petryna, Oleksandra, additional, Firth, Helen, additional, McWalter, Kirsty, additional, Zyskind, Jacob, additional, Telegrafi, Aida, additional, Juusola, Jane, additional, Person, Richard, additional, Bamshad, Michael J., additional, Earl, Dawn, additional, Tsai, Anne Chun-Hui, additional, Yearwood, Katherine R., additional, Marco, Elysa, additional, Nowak, Catherine, additional, Douglas, Jessica, additional, Hakonarson, Hakon, additional, and Bhoj, Elizabeth J., additional

Published
2022
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24. Correspondence on “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)” by Gregg et al

Author

Righetti, Sarah, primary, Dive, Lisa, additional, Archibald, Alison D., additional, Freeman, Lucinda, additional, McClaren, Belinda, additional, Kanga-Parabia, Anaita, additional, Delatycki, Martin B., additional, Laing, Nigel G., additional, Kirk, Edwin P., additional, Newson, Ainsley J., additional, Barlow-Stewart, Kristine, additional, Best, Stephanie, additional, Boggs, Kirsten, additional, Ebzery, Camron, additional, Edwards, Samantha, additional, Fehlberg, Zoe, additional, Fitzgerald, Lara, additional, Halliday, Jane, additional, Harrison, Katrina, additional, Kennedy, Jillian, additional, Long, Janet, additional, Massie, John, additional, Tutty, Erin, additional, Allcock, Richard, additional, Caruana, Jade, additional, Casella, Rachael, additional, Davis, Mark, additional, Hardy, Tristan, additional, Jelenich, Sarah, additional, Lunke, Sebastian, additional, McGaughran, Julie, additional, and Ravenscroft, Gina, additional

Published
2022
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25. Correspondence on “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)” by Gregg et al

Author

Barlow-Stewart, Kristine, Best, Stephanie, Boggs, Kirsten, Ebzery, Camron, Edwards, Samantha, Fehlberg, Zoe, Fitzgerald, Lara, Halliday, Jane, Harrison, Katrina, Kennedy, Jillian, Long, Janet, Massie, John, Tutty, Erin, Allcock, Richard, Caruana, Jade, Casella, Rachael, Davis, Mark, Hardy, Tristan, Jelenich, Sarah, Lunke, Sebastian, McGaughran, Julie, Ravenscroft, Gina, Righetti, Sarah, Dive, Lisa, Archibald, Alison D., Freeman, Lucinda, McClaren, Belinda, Kanga-Parabia, Anaita, Delatycki, Martin B., Laing, Nigel G., Kirk, Edwin P., and Newson, Ainsley J.

Published
2022
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26. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

Author

UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de génétique médicale UCL, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T, Breton, Sylvain, Romanelli Tavares, Vanessa L, Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M, Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J, Papsin, Blake C, Phillips, John H, Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H, Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y, Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M, Passos-Bueno, Maria R, Pingault, Véronique, De Pontual, Loïc, Amiel, Jeanne, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de génétique médicale UCL, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T, Breton, Sylvain, Romanelli Tavares, Vanessa L, Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M, Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J, Papsin, Blake C, Phillips, John H, Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H, Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y, Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M, Passos-Bueno, Maria R, Pingault, Véronique, De Pontual, Loïc, and Amiel, Jeanne

Abstract

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a "Question Mark Ear" (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of inheritance. The mutations identified to date are presumed to dysregulate the endothelin 1 signaling pathway. Here we describe 14 novel cases and reassess 25 published cases of ACS through a questionnaire for systematic data collection. All patients harbor mutation(s) in PLCB4, GNAI3, or EDN1. This series of patients contributes to the characterization of additional features occasionally associated with ACS such as respiratory, costal, neurodevelopmental, and genital anomalies, and provides management and monitoring recommendations.

Published
2022

27. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Author

Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T., Breton, Sylvain, Romanelli Tavares, Vanessa L., Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M., Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J., Papsin, Blake C., Phillips, John H., Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H., Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y., Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M., Passos-Bueno, Maria R., Pingault, Véronique, De Pontual, Loïc, Amiel, Jeanne, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T., Breton, Sylvain, Romanelli Tavares, Vanessa L., Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M., Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J., Papsin, Blake C., Phillips, John H., Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H., Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y., Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M., Passos-Bueno, Maria R., Pingault, Véronique, De Pontual, Loïc, and Amiel, Jeanne

Abstract

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a “Question Mark Ear” (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of inheritance. The mutations identified to date are presumed to dysregulate the endothelin 1 signaling pathway. Here we describe 14 novel cases and reassess 25 published cases of ACS through a questionnaire for systematic data collection. All patients harbor mutation(s) in PLCB4, GNAI3, or EDN1. This series of patients contributes to the characterization of additional features occasionally associated with ACS such as respiratory, costal, neurodevelopmental, and genital anomalies, and provides management and monitoring recommendations.

Published
2022

28. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Author

Genetica Klinische Genetica, Child Health, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T, Breton, Sylvain, Romanelli Tavares, Vanessa L, Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M, Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J, Papsin, Blake C, Phillips, John H, Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H, Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y, Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M, Passos-Bueno, Maria R, Pingault, Véronique, De Pontual, Loïc, Amiel, Jeanne, Genetica Klinische Genetica, Child Health, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T, Breton, Sylvain, Romanelli Tavares, Vanessa L, Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M, Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J, Papsin, Blake C, Phillips, John H, Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H, Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y, Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M, Passos-Bueno, Maria R, Pingault, Véronique, De Pontual, Loïc, and Amiel, Jeanne

Published
2022

29. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Author

Vegas, Nancy, primary, Demir, Zeynep, additional, Gordon, Christopher T., additional, Breton, Sylvain, additional, Romanelli Tavares, Vanessa L., additional, Moisset, Hugo, additional, Zechi‐Ceide, Roseli, additional, Kokitsu‐Nakata, Nancy M., additional, Kido, Yasuhiro, additional, Marlin, Sandrine, additional, Gherbi Halem, Souad, additional, Meerschaut, Ilse, additional, Callewaert, Bert, additional, Chung, Brian, additional, Revencu, Nicole, additional, Lehalle, Daphné, additional, Petit, Florence, additional, Propst, Evan J., additional, Papsin, Blake C., additional, Phillips, John H., additional, Jakobsen, Linda, additional, Le Tanno, Pauline, additional, Thévenon, Julien, additional, McGaughran, Julie, additional, Gerkes, Erica H., additional, Leoni, Chiara, additional, Kroisel, Peter, additional, Tan, Tiong Y., additional, Henderson, Alex, additional, Terhal, Paulien, additional, Basel‐Salmon, Lina, additional, Alkindy, Adila, additional, White, Susan M., additional, Passos‐Bueno, Maria R., additional, Pingault, Véronique, additional, De Pontual, Loïc, additional, and Amiel, Jeanne, additional

Published
2022
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32. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Author

Bournazos, Adam M., primary, Riley, Lisa G., additional, Bommireddipalli, Shobhana, additional, Ades, Lesley, additional, Akesson, Lauren S., additional, Al-Shinnag, Mohammad, additional, Alexander, Stephen I., additional, Archibald, Alison D., additional, Balasubramaniam, Shanti, additional, Berman, Yemima, additional, Beshay, Victoria, additional, Boggs, Kirsten, additional, Bojadzieva, Jasmina, additional, Brown, Natasha J., additional, Bryen, Samantha J., additional, Buckley, Michael F., additional, Chong, Belinda, additional, Davis, Mark R., additional, Dawes, Ruebena, additional, Delatycki, Martin, additional, Donaldson, Liz, additional, Downie, Lilian, additional, Edwards, Caitlin, additional, Edwards, Matthew, additional, Engel, Amanda, additional, Ewans, Lisa J., additional, Faiz, Fathimath, additional, Fennell, Andrew, additional, Field, Michael, additional, Freckmann, Mary-Louise, additional, Gallacher, Lyndon, additional, Gear, Russell, additional, Goel, Himanshu, additional, Goh, Shuxiang, additional, Goodwin, Linda, additional, Hanna, Bernadette, additional, Harraway, James, additional, Higgins, Megan, additional, Ho, Gladys, additional, Hopper, Bruce K., additional, Horton, Ari E., additional, Hunter, Matthew F., additional, Huq, Aamira J., additional, Josephi-Taylor, Sarah, additional, Joshi, Himanshu, additional, Kirk, Edwin, additional, Krzesinski, Emma, additional, Kumar, Kishore R., additional, Lemckert, Frances, additional, Leventer, Richard J., additional, Lindsey-Temple, Suzanna E., additional, Lunke, Sebastian, additional, Ma, Alan, additional, Macaskill, Steven, additional, Mallawaarachchi, Amali, additional, Marty, Melanie, additional, Marum, Justine E., additional, McCarthy, Hugh J., additional, Menezes, Manoj P., additional, McLean, Alison, additional, Milnes, Di, additional, Mohammad, Shekeeb, additional, Mowat, David, additional, Niaz, Aram, additional, Palmer, Elizabeth E., additional, Patel, Chirag, additional, Patel, Shilpan G., additional, Phelan, Dean, additional, Pinner, Jason R., additional, Rajagopalan, Sulekha, additional, Regan, Matthew, additional, Rodgers, Jonathan, additional, Rodrigues, Miriam, additional, Roxburgh, Richard H., additional, Sachdev, Rani, additional, Roscioli, Tony, additional, Samarasekera, Ruvishani, additional, Sandaradura, Sarah A., additional, Savva, Elena, additional, Schindler, Tim, additional, Shah, Margit, additional, Sinnerbrink, Ingrid B., additional, Smith, Janine M., additional, Smith, Richard J., additional, Springer, Amanda, additional, Stark, Zornitza, additional, Strom, Samuel P., additional, Sue, Carolyn M., additional, Tan, Kenneth, additional, Tan, Tiong Y., additional, Tantsis, Esther, additional, Tchan, Michel C., additional, Thompson, Bryony A., additional, Trainer, Alison H., additional, van Spaendonck-Zwarts, Karin, additional, Walsh, Rebecca, additional, Warwick, Linda, additional, White, Stephanie, additional, White, Susan M., additional, Williams, Mark G., additional, Wilson, Meredith J., additional, Wong, Wui Kwan, additional, Wright, Dale C., additional, Yap, Patrick, additional, Yeung, Alison, additional, Young, Helen, additional, Jones, Kristi J., additional, Bennetts, Bruce, additional, Cooper, Sandra T., additional, Abdulrasool, Ghusoon, additional, Al Eryani, Ghamdan, additional, Arts, Peer, additional, Bagnall, Richard, additional, Baker, Naomi L., additional, Barnett, Christopher, additional, Beecroft, Sarah, additional, Berbic, Marina, additional, Black, Michael, additional, Blackburn, Jim, additional, Blombery, Piers, additional, Bournazos, Adam M., additional, Branford, Susan, additional, Breen, Jimmy, additional, Burnett, Leslie, additional, Canson, Daffodil, additional, Cheong, Pak, additional, Chew, Edward, additional, Christodoulou, John, additional, Chung, Seo-Kyung, additional, Clark, Mike, additional, Cliffe, Corrina, additional, Cole, Melissa, additional, Collins, Felicity, additional, Compton, Alison, additional, Cooper, Antony, additional, Corbett, Mark, additional, Cowley, Mark, additional, Dudding, Tracy, additional, Eggers, Stefanie, additional, Eyras, Eduardo, additional, Fernandez, Miriam Fanjul, additional, Fellowes, Andrew, additional, Fleischer, Ron, additional, Folland, Chiara, additional, Fox, Lucy, additional, Gaff, Clara, additional, Galea, Melanie, additional, Ghaoui, Roula, additional, Gornanitis, Ilias, additional, Ha, Thuong, additional, Hayashi, Rippei, additional, Hayes, Ian, additional, Henderson, Alex, additional, Hesson, Luke, additional, Heyer, Erin, additional, Hildebrand, Michael, additional, Hipwell, Michael, additional, Hoskins, Cass, additional, Jackson, Matilda, additional, James, Paul, additional, Wong, Justin Jong-Leong, additional, Kassahn, Karin, additional, Kaub, Peter, additional, Kevin, Lucy, additional, Kumble, Smitha, additional, Kummerfeld, Sarah, additional, Laing, Nigel, additional, Lau, Chiyan, additional, Lee, Eric, additional, Leighton, Sarah, additional, Lundie, Ben, additional, Mayoh, Chelsea, additional, McGaughran, Julie, additional, McPhillips, Mary, additional, Meldrum, Cliff, additional, Middleton, Edwina, additional, Mina, Kym, additional, Nisselle, Amy, additional, Oates, Emily, additional, Oshlack, Alicia, additional, Parasivam, Gayathri, additional, Parsons, Michael, additional, Quinn, Michael, additional, Rasko, John, additional, Ravenscroft, Gina, additional, Ravine, Anja, additional, Recsei, Krista, additional, Rehn, Jacqueline, additional, Robertson, Stephen, additional, Ronan, Anne, additional, Ryland, Georgina, additional, Sadedin, Simon, additional, Schreiber, Andreas, additional, Scott, Hamish, additional, Scott, Rodney, additional, Semsarian, Christopher, additional, Simons, Cas, additional, Singer, Emma, additional, Smyth, Renee, additional, Spurdle, Amanda, additional, Sullivan, Patricia, additional, Sundercombe, Samantha, additional, Thorburn, David, additional, Toubia, John, additional, Trent, Ronald, additional, Tudini, Emma, additional, Voneague, Irina, additional, Waddell, Leigh, additional, Walker, Logan, additional, Wallis, Mathew, additional, Warnock, Nick, additional, Weatheritt, Robert, additional, White, Deborah, additional, Winship, Ingrid, additional, Worgan, Lisa, additional, Wu, Kathy, additional, and Ziolowski, Andrew, additional

Published
2022
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33. The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

Author

Archibald, Alison D., McClaren, Belinda J., Caruana, Jade, Tutty, Erin, King, Emily A., Halliday, Jane L., Best, Stephanie, Kanga-Parabia, Anaita, Bennetts, Bruce H., Cliffe, Corrina C., Madelli, Evanthia O., Ho, Gladys, Liebelt, Jan, Long, Janet C., Braithwaite, Jeffrey, Kennedy, Jillian, Massie, John, Emery, Jon D., McGaughran, Julie, and Marum, Justine E.

Abstract

Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie's Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie's Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program. [ABSTRACT FROM AUTHOR]

Published
2022
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34. Investigating equity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people

Author

Luke, Joanne, primary, Dalach, Philippa, additional, Tuer, Lindsay, additional, Savarirayan, Ravi, additional, Ferdinand, Angeline, additional, McGaughran, Julie, additional, Kowal, Emma, additional, Massey, Libby, additional, Garvey, Gail, additional, Dawkins, Hugh, additional, Jenkins, Misty, additional, Paradies, Yin, additional, Pearson, Glenn, additional, Stutterd, Chloe, additional, Baynam, Gareth, additional, and Kelaher, Margaret, additional

Published
2021
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35. Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy

Author

Gramlich, Michael, Pane, Luna Simona, Zhou, Qifeng, Chen, Zhifen, Murgia, Marta, Schötterl, Sonja, Goedel, Alexander, Metzger, Katja, Brade, Thomas, Parrotta, Elvira, Schaller, Martin, Gerull, Brenda, Thierfelder, Ludwig, Aartsma-Rus, Annemieke, Labeit, Siegfried, Atherton, John J, McGaughran, Julie, Harvey, Richard P, Sinnecker, Daniel, Mann, Matthias, Laugwitz, Karl-Ludwig, Gawaz, Meinrad Paul, and Moretti, Alessandra

Published
2015
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36. CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

Author

Starokadomskyy, Petro, Gluck, Nathan, Li, Haiying, Chen, Baozhi, Wallis, Mathew, Maine, Gabriel N., Mao, Xicheng, Zaidi, Iram W., Hein, Marco Y., McDonald, Fiona J., Lenzner, Steffen, Zecha, Agnes, Ropers, Hans-Hilger, Kuss, Andreas W., McGaughran, Julie, Gecz, Jozef, and Burstein, Ezra

Subjects
Gene expression -- Research -- Physiological aspects, Inflammation -- Research -- Genetic aspects, Immune response -- Research -- Genetic aspects, Cellular signal transduction -- Research -- Physiological aspects, Cancer -- Research -- Genetic aspects, Health care industry
Abstract

NF-κB is a master regulator of inflammation and has been implicated in the pathogenesis of immune disorders and cancer. Its regulation involves a variety of steps, including the controlled degradation [...]

Published
2013
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37. Investigation of current models of care for genetic heart disease in Australia: A national clinical audit

Author

Austin, Rachel, primary, Quinn, Michael C.J., additional, Afoakwah, Clifford, additional, Metke-Jimenez, Alejandro, additional, Leroux, Hugo, additional, Atherton, John, additional, Brown, Jaye S., additional, Wornham, Linda J., additional, Macciocca, Ivan, additional, de Silva, Michelle G., additional, Thompson, Tina, additional, Martin, Ellenore M., additional, Hilton, Desiree, additional, Devery, Sophie, additional, Wu, Kathy H.C., additional, Jackson, Matilda R., additional, Correnti, Gemma, additional, Overkov, Angela, additional, Elbracht-Leong, Stefanie, additional, Ingles, Jodie, additional, Scuffham, Paul, additional, Semsarian, Christopher, additional, and McGaughran, Julie, additional

Published
2021
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38. EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

Author

H��ffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S, Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A, Rawson, Kristyn L, Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Fr��d��ric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Nelson, Stanley F, Zacher, Pia, Abou Jamra, Rami, Kl��ckner, Chiara, McGaughran, Julie, Kohlhase, J��rgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J Guillen, Henderson, Lindsay B, Palculict, Timothy Blake, Mullegama, Sureni V, Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A, Wahl, Erica, Reis, Andr��, and Zweier, Christiane

Subjects
Cleft Lip, Eukaryotic Initiation Factor-3, Research, EIF3F gene, 610 Medicine & health, Deafness, Cleft Palate, Short stature, Neurodevelopmental disorder, Neurodevelopmental Disorders, Intellectual Disability, Microcephaly, Behavioral difficulties, Humans, Altered muscular tone, ddc:610
Abstract

Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual disability, epilepsy, behavioral problems and sensorineural hearing-loss. To refine the phenotypic and molecular spectrum of EIF3F-related neurodevelopmental disorder, we examined independent patients. Results 21 patients were homozygous and one compound heterozygous for c.694T>G/p.(Phe232Val) in EIF3F. Haplotype analyses in 15 families suggested that c.694T>G/p.(Phe232Val) was a founder variant. All affected individuals had developmental delays including delayed speech development. About half of the affected individuals had behavioral problems, altered muscular tone, hearing loss, and short stature. Moreover, this study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum. Minor dysmorphic features were observed, although neither the individuals’ facial nor general appearance were obviously distinctive. Symptoms in the compound heterozygous individual with an additional truncating variant were at the severe end of the spectrum in regard to motor milestones, speech delay, organic problems and pre- and postnatal growth of body and head, suggesting some genotype–phenotype correlation. Conclusions Our study refines the phenotypic and expands the molecular spectrum of EIF3F-related syndromic neurodevelopmental disorder. Supplementary Information The online version contains supplementary material available at 10.1186/s13023-021-01744-1.

Published
2021

42. Hypertrophic Cardiomyopathy: Challenging the Status Quo?

Author

Younger, John, Lo, Ada, McCormack, Louise, McGaughran, Julie, Prasad, Sandhir, Atherton, John J., Younger, John, Lo, Ada, McCormack, Louise, McGaughran, Julie, Prasad, Sandhir, and Atherton, John J.

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common cardiovascular genetic disorder. While our mechanistic understanding has been informed by elegant gene discovery studies that led to the term “disease of the sarcomere”, more recent investigations have challenged the single-gene hypothesis. Multimodality imaging has allowed better phenotyping to facilitate early diagnosis, identify treatable phenocopies, and guide management. While HCM remains an important cause of sudden death, recent studies have reported a substantial cumulative burden of heart failure and atrial fibrillation in middle-aged and older individuals. Nonetheless, improvements in risk stratification have allowed early intervention to transition HCM from being a common cause of sudden death in the young to a treatable chronic disease.

Published
2020

43. Evolutionary dissection of mtDNA hg H:a susceptibility factor for hypertrophic cardiomyopathy

Author

Hagen, Christian M., Elson, Joanna L., Hedley, Paula L., Aidt, Frederik H., Havndrup, Ole, Jensen, Morten K., Kanters, Jørgen K., Atherton, John J., McGaughran, Julie, Bundgaard, Henning, Christiansen, Michael, Hagen, Christian M., Elson, Joanna L., Hedley, Paula L., Aidt, Frederik H., Havndrup, Ole, Jensen, Morten K., Kanters, Jørgen K., Atherton, John J., McGaughran, Julie, Bundgaard, Henning, and Christiansen, Michael

Abstract

Mitochondrial DNA (mtDNA) haplogroup (hg) H has been reported as a susceptibility factor for hypertrophic cardiomyopathy (HCM). This was established in genetic association studies, however, the SNP or SNP’s that are associated with the increased risk have not been identified. Hg H is the most frequent European mtDNA hg with greater than 80 subhaplogroups (subhgs) each defined by specific SNPs. We tested the hypothesis that the distribution of H subhgs might differ between HCM patients and controls. The subhg H distribution in 55 HCM index cases was compared to that of two Danish mtDNA hg H control groups (n = 170 and n = 908, respectively). In the HCM group, H and 12 different H subhgs were found. All these, except subhgs H73, were also found in both control groups. The HCM group was also characterized by a higher proportion of H3 compared to H2. In the HCM group the H3/H2 proportion was 1.7, whereas it was 0.45 and 0.54 in the control groups. This tendency was replicated in an independent group of Hg H HCM index cases (n = 39) from Queensland, Australia, where the H3/H2 ratio was 1.5. In conclusion, the H subhgs distribution differs between HCM cases and controls, but the difference is subtle, and the understanding of the pathogenic significance is hampered by the lack of functional studies on the subhgs of H.

Published
2020

48. “This is My Boy’s Health! Talk Straight to Me!” Perspectives on Accessible and Culturally Safe Care Among Aboriginal and Torres Strait Islander Patients of Clinical Genetics Services

Author

Dalach, Philippa, primary, Savarirayan, Ravi, additional, Baynam, Gareth, additional, McGaughran, Julie, additional, Kowal, Emma, additional, Massey, Libby, additional, Jenkins, Misty, additional, Paradies, Yin, additional, and Kelaher, Margaret, additional

Published
2020
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49. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

Author

Kirk, Edwin P., primary, Ong, Royston, additional, Boggs, Kirsten, additional, Hardy, Tristan, additional, Righetti, Sarah, additional, Kamien, Ben, additional, Roscioli, Tony, additional, Amor, David J., additional, Bakshi, Madhura, additional, Chung, Clara W. T., additional, Colley, Alison, additional, Jamieson, Robyn V., additional, Liebelt, Jan, additional, Ma, Alan, additional, Pachter, Nicholas, additional, Rajagopalan, Sulekha, additional, Ravine, Anja, additional, Wilson, Meredith, additional, Caruana, Jade, additional, Casella, Rachael, additional, Davis, Mark, additional, Edwards, Samantha, additional, Archibald, Alison, additional, McGaughran, Julie, additional, Newson, Ainsley J., additional, Laing, Nigel G., additional, and Delatycki, Martin B., additional

Published
2020
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