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1. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Author

Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., and Rubboli, Guido

Published
2021
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4. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Author

Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, cpgdsconsortium@cheo.on.ca, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, and Boycott, Kym M

Abstract

Abstract Background Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations. Conclusions This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.

Published
2013

6. 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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7. 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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8. A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

Author

van der Sluijs, Pleuntje J., primary, Alders, Mariëlle, additional, Dingemans, Alexander J. M., additional, Parbhoo, Kareesma, additional, van Bon, Bregje W., additional, Dempsey, Jennifer C., additional, Doherty, Dan, additional, den Dunnen, Johan T., additional, Gerkes, Erica H., additional, Milller, Ilana M., additional, Moortgat, Stephanie, additional, Regier, Debra S., additional, Ruivenkamp, Claudia A. L., additional, Schmalz, Betsy, additional, Smol, Thomas, additional, Stuurman, Kyra E., additional, Vincent-Delorme, Catherine, additional, de Vries, Bert B. A., additional, Sadikovic, Bekim, additional, Hickey, Scott E., additional, Rosenfeld, Jill A., additional, Maystadt, Isabelle, additional, and Santen, Gijs W. E., additional

Published
2021
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9. Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Author

Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, Francois-Guillaume, Donckier De Donceel, Annette, Devriendt, Koenraad, Jansen, Anna C M A.C., Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije E C, Moortgat, Stephanie, Mortier, Geert, Nassogne, Marie-Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van Der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Hélène, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, Abramowicz, Marc, Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, Francois-Guillaume, Donckier De Donceel, Annette, Devriendt, Koenraad, Jansen, Anna C M A.C., Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije E C, Moortgat, Stephanie, Mortier, Geert, Nassogne, Marie-Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van Der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Hélène, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, and Abramowicz, Marc

Abstract

Background: Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. Methods: We performed detailed phenotypic and genomic analyses in a large cohort (n = 169) of patients referred for PM and could establish a molecular diagnosis in 38 patients. Results: Pathogenic variants in ASPM and WDR62 were the most frequent causes in non-consanguineous patients in our cohort. In consanguineous patients, microarray and targeted gene panel analyses reached a diagnostic yield of 67%, which contrasts with a much lower rate in non-consanguineous patients (9%). Our series includes 11 novel pathogenic variants and we identify novel candidate genes including IGF2BP3 and DNAH2. We confirm the progression of microcephaly over time in affected children. Epilepsy was an important associated feature in our PM cohort, affecting 34% of patients with a molecular confirmation of the PM diagnosis, with various degrees of severity and seizure types. Conclusion: Our findings will help to prioritize genomic investigations, accelerate molecular diagnoses, and improve the management of PM patients., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2021

10. A case series of familial ARID1B variants illustrating variable expression and suggestions to update the ACMG criteria

Author

van der Sluijs, Pleuntje J., Alders, Mariëlle, Dingemans, Alexander J.M., Parbhoo, Kareesma, van Bon, Bregje W., Dempsey, Jennifer C., Doherty, Dan, Den Dunnen, Johan T., Gerkes, Erica H., Milller, Ilana M., Moortgat, Stephanie, Regier, Debra S., Ruivenkamp, Claudia A.L., Schmalz, Betsy, Smol, Thomas, Stuurman, Kyra E., Vincent-Delorme, Catherine, de Vries, Bert B.A., Sadikovic, Bekim, Hickey, Scott E., Rosenfeld, Jill A., Maystadt, Isabelle, Santen, Gijs W.E., van der Sluijs, Pleuntje J., Alders, Mariëlle, Dingemans, Alexander J.M., Parbhoo, Kareesma, van Bon, Bregje W., Dempsey, Jennifer C., Doherty, Dan, Den Dunnen, Johan T., Gerkes, Erica H., Milller, Ilana M., Moortgat, Stephanie, Regier, Debra S., Ruivenkamp, Claudia A.L., Schmalz, Betsy, Smol, Thomas, Stuurman, Kyra E., Vincent-Delorme, Catherine, de Vries, Bert B.A., Sadikovic, Bekim, Hickey, Scott E., Rosenfeld, Jill A., Maystadt, Isabelle, and Santen, Gijs W.E.

Abstract

ARID1B is one of the most frequently mutated genes in intellectual disability (~1%). Most variants are readily classified, since they are de novo and are predicted to lead to loss of function, and therefore classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines for the interpretation of sequence variants. However, familial loss-of-function variants can also occur and can be challenging to interpret. Such variants may be pathogenic with variable expression, causing only a mild phenotype in a parent. Alternatively, since some regions of the ARID1B gene seem to be lacking pathogenic variants, loss-of-function variants in those regions may not lead to ARID1B haploinsufficiency and may therefore be benign. We describe 12 families with potential loss-of-function variants, which were either familial or with unknown inheritance and were in regions where pathogenic variants have not been described or are otherwise challenging to interpret. We performed detailed clinical and DNA methylation studies, which allowed us to confidently classify most variants. In five families we observed transmission of pathogenic variants, confirming their highly variable expression. Our findings provide further evidence for an alternative translational start site and we suggest updates for the ACMG guidelines for the interpretation of sequence variants to incorporate DNA methylation studies and facial analyses.

Published
2021

12. Further delineation of the female phenotype withKDM5Cdisease causing variants: 19 new individuals and review of the literature

Author

Carmignac, Virginie, primary, Nambot, Sophie, additional, Lehalle, Daphné, additional, Callier, Patrick, additional, Moortgat, Stephanie, additional, Benoit, Valérie, additional, Ghoumid, Jamal, additional, Delobel, Bruno, additional, Smol, Thomas, additional, Thuillier, Caroline, additional, Zordan, Cécile, additional, Naudion, Sophie, additional, Bienvenu, Thierry, additional, Touraine, Renaud, additional, Ramond, Francis, additional, Zweier, Christiane, additional, Reis, André, additional, Kraus, Cornelia, additional, Nizon, Mathilde, additional, Cogné, Benjamin, additional, Verloes, Alain, additional, Tran Mau‐Them, Frédéric, additional, Sorlin, Arthur, additional, Jouan, Thibaud, additional, Duffourd, Yannis, additional, Tisserant, Emilie, additional, Philippe, Christophe, additional, Vitobello, Antonio, additional, Thevenon, Julien, additional, Faivre, Laurence, additional, and Thauvin‐Robinet, Christel, additional

Published
2020
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14. Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Author

Carmignac, Virginie, Nambot, Sophie, Lehalle, Daphné, Callier, Patrick, Moortgat, Stephanie, Benoit, Valérie, Ghoumid, Jamal, Delobel, Bruno, Smol, Thomas, Thuillier, Caroline, Zordan, Cécile, Naudion, Sophie, Bienvenu, Thierry, Touraine, Renaud, Ramond, Francis, Zweier, Christiane, Reis, André, Kraus, Cornelia, Nizon, Mathilde, and Cogné, Benjamin

Subjects
LITERATURE reviews, GENETIC counseling, FACE, SHORT stature, LEARNING disabilities
Abstract

X‐linked intellectual disability (XLID) is a genetically heterogeneous condition involving more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine specific demethylase 5C (KDM5C) gene. KDM5C variants are one of the major causes of moderate to severe XLID. Affected males present with short stature, distinctive facial features, behavioral disorders, epilepsy, and spasticity. For most of these variants, related female carriers have been reported, but phenotypic descriptions were poor. Here, we present clinical and molecular features of 19 females carrying 10 novel heterozygous variants affecting KDM5C function, including five probands with de novo variants. Four heterozygous females were asymptomatic. All affected individuals presented with learning disabilities or ID (mostly moderate), and four also had a language impairment mainly affecting expression. Behavioral disturbances were frequent, and endocrine disorders were more frequent in females. In conclusion, our findings provide evidence of the role of KDM5C in ID in females highlighting the increasing implication of XLID genes in females, even in sporadic affected individuals. Disease expression of XLID in females should be taken into consideration for genetic counseling. [ABSTRACT FROM AUTHOR]

Published
2020
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16. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

Author

Moortgat, Stephanie, Désir, Julie, Benoit, Valérie, Boulanger, Sébastien, Pendeville, Hélène, Nassogne, Marie-Cécile, Lederer, Damien, Maystadt, Isabelle, Moortgat, Stephanie, Désir, Julie, Benoit, Valérie, Boulanger, Sébastien, Pendeville, Hélène, Nassogne, Marie-Cécile, Lederer, Damien, and Maystadt, Isabelle

Abstract

X-chromosome exome sequencing was performed to identify the genetic cause of syndromic intellectual disability in two unrelated families with suspected X-linked inheritance. In both families, affected males presented with severe intellectual disability, microcephaly, growth retardation, and epilepsy. A missense mutation (c.777T>G p.(Ile259Met)) and a frameshift mutation (c.1394_1397del p.(Ile465Serfs*4)) were identified in the EIF2S3 gene in the hemizygous state in affected patients, and in the heterozygous states female obligate carriers. A missense mutation in EIF2S3, coding for the gamma-subunit of the translation initiation factor eIF2, was reported once in a family presenting with similar clinical features. Morpholino-based knockdown of the zebrafish EIF2S3 ortholog (eif2s3) recapitulates the human microcephaly and short stature phenotype, supporting the pathogenicity of the identified variants. Our data confirm that EIF2S3 mutation is implicated in a rare, but recognizable, form of syndromic intellectual disability. © 2016 Wiley Periodicals, Inc., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2016

17. RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family

Author

Maystadt, Isabelle, Destree, Anne, Lederer, Damien, Moortgat, Stephanie, Benoit, Valérie, Aeby, Alec, Jurkiewicz, Dorota, Krajewska-Walasek, Małgorzata, Hanauer, André, Thomas, GarethM G.M., Maystadt, Isabelle, Destree, Anne, Lederer, Damien, Moortgat, Stephanie, Benoit, Valérie, Aeby, Alec, Jurkiewicz, Dorota, Krajewska-Walasek, Małgorzata, Hanauer, André, and Thomas, GarethM G.M.

Abstract

SCOPUS: le.j, FLWIN, info:eu-repo/semantics/published

Published
2014

21. Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.

Author

Sobering AK, Bryant LM, Li D, McGaughran J, Maystadt I, Moortgat S, Graham JM Jr, van Haeringen A, Ruivenkamp C, Cuperus R, Vogt J, Morton J, Brasch-Andersen C, Steenhof M, Hansen LK, Adler É, Lyonnet S, Pingault V, Sandrine M, Ziegler A, Donald T, Nelson B, Holt B, Petryna O, Firth H, McWalter K, Zyskind J, Telegrafi A, Juusola J, Person R, Bamshad MJ, Earl D, Chun-Hui Tsai A, Yearwood KR, Marco E, Nowak C, Douglas J, Hakonarson H, and Bhoj EJ

Abstract

[This corrects the article DOI: 10.1016/j.xhgg.2022.100102.]., (© 2022 The Author(s).)

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

Author

Sobering AK, Bryant LM, Li D, McGaughran J, Maystadt I, Moortgat S, Graham JM Jr, van Haeringen A, Ruivenkamp C, Cuperus R, Vogt J, Morton J, Brasch-Andersen C, Steenhof M, Hansen LK, Adler É, Lyonnet S, Pingault V, Sandrine M, Ziegler A, Donald T, Nelson B, Holt B, Petryna O, Firth H, McWalter K, Zyskind J, Telegrafi A, Juusola J, Person R, Bamshad MJ, Earl D, Tsai AC, Yearwood KR, Marco E, Nowak C, Douglas J, Hakonarson H, and Bhoj EJ

Abstract

Loss-of-function variants in PHD Finger Protein 8 ( PHF8 ) cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID. PHF8 is a histone demethylase that is important for epigenetic regulation of gene expression. PHF8-XLID is an under-characterized disorder with only five previous reports describing different PHF8 predicted loss-of-function variants in eight individuals. Features of PHF8-XLID include ID and craniofacial dysmorphology. In this report we present 16 additional individuals with PHF8-XLID from 11 different families of diverse ancestry. We also present five individuals from four different families who have ID and a variant of unknown significance in PHF8 with no other explanatory variant in another gene. All affected individuals exhibited developmental delay and all but two had borderline to severe ID. Of the two who did not have ID, one had dyscalculia and the other had mild learning difficulties. Craniofacial findings such as hypertelorism, microcephaly, elongated face, ptosis, and mild facial asymmetry were found in some affected individuals. Orofacial clefting was seen in three individuals from our cohort, suggesting that this feature is less common than previously reported. Autism spectrum disorder and attention deficit hyperactivity disorder, which were not previously emphasized in PHF8-XLID, were frequently observed in affected individuals. This series expands the clinical phenotype of this rare ID syndrome caused by loss of PHF8 function., Competing Interests: J.J., J.Z., A.T., R.P., and K.M. are employees of GeneDx, Inc. All other authors have no conflict of interest to declare., (© 2022 The Author(s).)

Published
2022
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