Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters.

ABSTRACT: This report details two novel RAB3GAP1 mutations causing Warburg Micro syndrome, a rare autosomal recessive disorder characterized by multiple organ abnormalities involving the ocular, nervous, and endocrine systems. Two Italian sisters were referred to our department for the assessment of congenital bilateral cataracts. They also presented with microphthalmia, postnatal microcephaly, severe developmental delay, and hypotony. Perinatal investigations were negative for any toxins or infectious diseases during pregnancy, including toxoplasmosis, rubella, cytomegalovirus, and herpes virus. Genetic tests were performed on samples from probands and their parents, targeting a total of 114 genes. After sequence analysis of RAB3GAP1, two heterozygous changes were identified in both sisters: C.519G

SUBMITTER: Loiudice P 

PROVIDER: S-EPMC5890559 | biostudies-literature | 2017 Oct-Dec

REPOSITORIES: biostudies-literature