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

ABSTRACT: 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.

SUBMITTER: Alavi O

PROVIDER: S-EPMC8548584 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature

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

Alavi Omid O Khamirani Hossein Jafari HJ Zoghi Sina S Feili Afrooz A Dastgheib Seyed Alireza SA Tabei Seyed Mohammad Bagher SMB Manoochehri Jamal J Panahandeh Seyed Mehdi SM Kamali Majid M Dianatpour Mehdi M

Human genome variation 20211026 1

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, in ...[more]

PMID: 34702808

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