Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome.

ABSTRACT:

Background and purpose

Warburg Micro syndrome (WARBM) is a rare autosomal recessive genetic disease characterized by ocular, neurologic, and endocrine anomalies. WARBM is a phenotypically and genetically heterogeneous syndrome caused by mutations in RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20. Here we present the clinical and genetic characterization of a consanguineous Tunisian family with a WARBM phenotype presenting two pathogenic variations, one of which is on RAB3GAP1.

Methods

We applied whole-exome sequencing (WES) to two affected young males presenting a WARBM-compatible phenotype.

Results

We reveal a new variation in RAB3GAP1 (NM_012233.3: c.297del, p.Gln99fs) and another variation in ABCD1 (NM_000033: c.896A>G, p.Hi

SUBMITTER: Kerkeni N 

PROVIDER: S-EPMC8926778 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature