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
Shiraz Institute for Stem Cell and Regenerative Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Department of Tissue Engineering and Cell Therapy, School of Advanced Technologies in Medicine, Shiraz University of Medical Science, Shiraz, Iran.
Hum Genome Var. 2021 Oct 26;8(1):39. doi: 10.1038/s41439-021-00171-9.
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.
在本研究中，我们通过全外显子组测序在RAB3GAP1基因中检测到一个新的致病变异和一个先前报道过的变异（NM_001172435.2: c.1552C>T, p.Gln518*; c.1471C>T, p.Arg491*）。首例患者为一名3岁女童，表现为双侧先天性白内障、发育迟缓、颅面特征异常、耐药性便秘和胼胝体发育不全。第二个家系的先证者是一名13岁男孩，患有发育迟缓、四肢瘫痪、智力残疾、颅面特征异常和胼胝体发育不全。
