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https://hdl.handle.net/1822/57863
Título: | Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders |
Autor(es): | Jobling, Rebekah Stavropoulos, Dimitri James Marshall, Christian R. Cytrynbaum, Cheryl Axford, Michelle M. Londero, Vanessa Moalem, Sharon Orr, Jennifer Rossignol, Francis Lopes, Fátima Daniela Teixeira Gauthier, Julie Alos, Nathalie Rupps, Rosemarie McKinnon, Margaret Adam, Shelin Nowaczyk, Malgorzata J. M. Walker, Susan Scherer, Stephen W. Nassif, Christina Hamdan, Fadi F. Deal, Cheri L. Soucy, Jean-François Weksberg, Rosanna Macleod, Patrick Michaud, Jacques L. Chitayat, David |
Palavras-chave: | chitayat-hall syndrome genetics growth hormone deficiency magel2 schaaf-yang syndrome |
Data: | Mai-2018 |
Editora: | BMJ Publishing Group |
Revista: | Journal of Medical Genetics |
Citação: | Jobling, R., Stavropoulos, D. J., Marshall, C. R., Cytrynbaum, C., et. al. (2018). Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders. Journal of medical genetics, 55(5), 316-321 |
Resumo(s): | Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified. Background Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified. Methods and results We identified three unrelated families with a total of six affected patients with the clinical manifestations of Chitayat-Hall syndrome. Through whole exome or whole genome sequencing, pathogenic variants in the MAGEL2 gene were identified in all affected patients. All disease-causing sequence variants detected are predicted to result in a truncated protein, including one complex variant that comprised a deletion and inversion. Conclusions Chitayat-Hall syndrome is caused by pathogenic variants in MAGEL2 and shares a common aetiology with the recently described Schaaf-Yang syndrome. The phenotype of MAGEL2-related disorders is expanded to include growth hormone deficiency as an important and treatable complication |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/57863 |
DOI: | 10.1136/jmedgenet-2017-105222 |
ISSN: | 0022-2593 |
e-ISSN: | 1468-6244 |
Versão da editora: | https://jmg.bmj.com/content/55/5/316 |
Arbitragem científica: | yes |
Acesso: | Acesso aberto |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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jobling2018.pdf | 991,48 kB | Adobe PDF | Ver/Abrir |