A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature.

ABSTRACT:

Background

The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including H syndrome, pigmented hypertrichosis with insulin dependent diabetes, Faisalabad histiocytosis, and dysosteosclerosis. However, all these disorders with their different names and terminologies are actually the same entity termed H syndrome.

Case presentation

We report four GJB2 and GJB6 negative deaf patients from two Iranian related families who present the associated symptoms of SLC29A3-disorder. Whole Exome Sequencing (WES) using Next Generation Illumina Sequencing was used to enrich all exons of protein-coding genes as well as some other important genomic regio

SUBMITTER: Noavar S 

PROVIDER: S-EPMC6716938 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature