Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1

In this study, we detected a novel pathogenic variant and a previously reported variant in RAB3GAP1 by whole-exome sequencing (NM_001172435.2: c.1552C>T, p.Gln518*; c.1471C>T, p.Arg491*). The first patient is a 3-year-old girl who presented with bilateral congenital cataracts, developmental de...

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Detalles Bibliográficos
Autores principales: Alavi, Omid, Khamirani, Hossein Jafari, Zoghi, Sina, Feili, Afrooz, Dastgheib, Seyed Alireza, Tabei, Seyed Mohammad Bagher, Manoochehri, Jamal, Panahandeh, Seyed Mehdi, Kamali, Majid, Dianatpour, Mehdi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8548584/
https://www.ncbi.nlm.nih.gov/pubmed/34702808
http://dx.doi.org/10.1038/s41439-021-00171-9
Descripción
Sumario:In this study, we detected a novel pathogenic variant and a previously reported variant in RAB3GAP1 by whole-exome sequencing (NM_001172435.2: c.1552C>T, p.Gln518*; c.1471C>T, p.Arg491*). The first patient is a 3-year-old girl who presented with bilateral congenital cataracts, developmental delay, abnormal craniofacial features, drug-resistant constipation, and corpus callosum hypoplasia. The proband of the second family is a 13-year-old boy who suffers from developmental delay, quadriplegia, intellectual disability, abnormal craniofacial features, and corpus callosum hypoplasia.

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