Two novel GJA1 variants in oculodentodigital dysplasia.

ABSTRACT:

Background

Oculodentodigital dysplasia (ODDD) is a rare disorder with pleiotropic effects involving multiple body systems, caused by mutations in the gap junction protein alpha 1 (GJA1) gene. GJA1 gene encodes a polytopic connexin membrane protein, Cx43, that is a component of connexon membrane channels.

Methods

We describe two unrelated female probands referred for a genetic review in view of a dysmorphic clinical phenotype.

Results

Two novel missense mutations in GJA1 that substitute conserved amino acids in the first and second transmembrane domains (NM_000165.5: c.77T>C p.Leu26Pro and NM_000165.5:c.287T>G p.Val96Gly) were detected through targeted sequencing of GJA1. These variants were detected in the heterozygous state in the two Maltese probands and segregated

SUBMITTER: Pace NP 

PROVIDER: S-EPMC6732303 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature