Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2018 |
| Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | https://hdl.handle.net/1822/57863 |
Resumo: | 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. |
| id |
RCAP_852e5d90f9a564634e986a2e3e888e57 |
|---|---|
| oai_identifier_str |
oai:repositorium.sdum.uminho.pt:1822/57863 |
| network_acronym_str |
RCAP |
| network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| repository_id_str |
7160 |
| spelling |
Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorderschitayat-hall syndromegeneticsgrowth hormone deficiencymagel2schaaf-yang syndromeCiências Médicas::Medicina BásicaScience & TechnologyChitayat-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 complicationhe McLaughlin Centre, University of Toronto, Toronto, Canada, and Fondation Jeanne et Jean- Louis Lévesque (JLM). The Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Canada. FDL has a fellowship funded by FCT - Fundação para a Ciência e a Tecnologia (SFRH/BD/84650/2010)info:eu-repo/semantics/publishedVersionBMJ Publishing GroupUniversidade do MinhoJobling, RebekahStavropoulos, Dimitri JamesMarshall, Christian R.Cytrynbaum, CherylAxford, Michelle M.Londero, VanessaMoalem, SharonOrr, JenniferRossignol, FrancisLopes, Fátima Daniela TeixeiraGauthier, JulieAlos, NathalieRupps, RosemarieMcKinnon, MargaretAdam, ShelinNowaczyk, Malgorzata J. M.Walker, SusanScherer, Stephen W.Nassif, ChristinaHamdan, Fadi F.Deal, Cheri L.Soucy, Jean-FrançoisWeksberg, RosannaMacleod, PatrickMichaud, Jacques L.Chitayat, David2018-052018-05-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/1822/57863engJobling, 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), 316-3210022-25931468-624410.1136/jmedgenet-2017-10522229599419https://jmg.bmj.com/content/55/5/316info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-21T12:06:04Zoai:repositorium.sdum.uminho.pt:1822/57863Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:56:41.890945Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders |
| title |
Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders |
| spellingShingle |
Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders Jobling, Rebekah chitayat-hall syndrome genetics growth hormone deficiency magel2 schaaf-yang syndrome Ciências Médicas::Medicina Básica Science & Technology |
| title_short |
Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders |
| title_full |
Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders |
| title_fullStr |
Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders |
| title_full_unstemmed |
Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders |
| title_sort |
Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders |
| author |
Jobling, Rebekah |
| author_facet |
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 |
| author_role |
author |
| author2 |
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 |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Universidade do Minho |
| dc.contributor.author.fl_str_mv |
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 |
| dc.subject.por.fl_str_mv |
chitayat-hall syndrome genetics growth hormone deficiency magel2 schaaf-yang syndrome Ciências Médicas::Medicina Básica Science & Technology |
| topic |
chitayat-hall syndrome genetics growth hormone deficiency magel2 schaaf-yang syndrome Ciências Médicas::Medicina Básica Science & Technology |
| description |
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. |
| publishDate |
2018 |
| dc.date.none.fl_str_mv |
2018-05 2018-05-01T00:00:00Z |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
| dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.uri.fl_str_mv |
https://hdl.handle.net/1822/57863 |
| url |
https://hdl.handle.net/1822/57863 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
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 0022-2593 1468-6244 10.1136/jmedgenet-2017-105222 29599419 https://jmg.bmj.com/content/55/5/316 |
| dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
| eu_rights_str_mv |
openAccess |
| dc.format.none.fl_str_mv |
application/pdf |
| dc.publisher.none.fl_str_mv |
BMJ Publishing Group |
| publisher.none.fl_str_mv |
BMJ Publishing Group |
| dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
| instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
| instacron_str |
RCAAP |
| institution |
RCAAP |
| reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
| repository.mail.fl_str_mv |
|
| _version_ |
1799132354143322112 |