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- Title
Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1.
- Authors
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
- 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.
- Subjects
DEVELOPMENTAL delay; CORPUS callosum; INTELLECTUAL disabilities; SYNDROMES; INTRAOCULAR lenses; QUADRIPLEGIA
- Publication
Human Genome Variation, 2021, Vol 8, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-021-00171-9