Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria

Soubhi Tenawi; Rawan Al Khudari; Diana Alasmar

doi:10.1093/omcr/omaa031

Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria

Oxf Med Case Reports. 2020 May 23;2020(4):omaa031. doi: 10.1093/omcr/omaa031. eCollection 2020 Apr.

Authors

Soubhi Tenawi¹, Rawan Al Khudari¹, Diana Alasmar²

Affiliations

¹ Faculty of Medicine, Damascus University, Damascus, Syria.
² Professor of Inborn Errors of Metabolism, Pediatrics Department, Damascus University, Damascus, Syria.

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.

Keywords: RAB3GAP1; Warburg Micro syndrome type 1; Warburg syndrome; whole-exome sequencing.