Affiliation:
1. Faculty of Medicine, Damascus University, Damascus, Syria
2. Professor of Inborn Errors of Metabolism, Pediatrics Department, Damascus University, Damascus, Syria
Abstract
Abstract
Warburg Micro syndrome is a rare autosomal recessive disease due to mutation in the RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. It is commonly seen in consanguineous marriages, characterized by optic (microcornea, microphthalmia, congenital cataracts), neurologic )microcephaly, corpus callosum hypoplasia, severe mental retardation( and hypogonadism; some non-typical findings could be present (cardiomyopathy, peripheral neuropathy). We report a novel homozygous mutation in the RAB3GAP1 gene in a 7-month-old boy from healthy nonconsanguineous parents from the same village in Syria, with bilateral congenital cataracts, hypogonadism, muscular hypotonia and severe developmental delay. Whole exome sequencing (WES) showed a homozygous mutation in the c.2195del p.(Pro732Glnfs*6) in exon 19 of the RAB3GAP1 gene, which is likely pathogenic and correlates with Warburg Micro syndrome type 1.
Publisher
Oxford University Press (OUP)
Subject
Infectious Diseases,Microbiology,Parasitology
Reference9 articles.
1. Autosomal recesssive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and Hypogenitalism: micro syndrome;Warburg;JAMA Pediatr,1993
2. Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype–phenotype correlations in Warburg micro syndrome and Martsolf syndrome;Handley;Hum Mutat,2013
3. Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome;Imagawa;Human Genome Variation,2015
4. Mutations of the catalytic subunit of RAB3GAP cause Warburg micro syndrome;Aligianis;Nat Genet,2005
5. Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein;Nagano;J Biol Chem,1998
Cited by
4 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献