Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East.

ABSTRACT: We report a family from Tabuk, Saudi Arabia, previously screened for Acrodermatitis Enteropathica (AE), in which two siblings presented with typical features of acral dermatitis and a pustular eruption but differing severity. Affected members of our family carry a rare genetic variant, p.Gly512Trp in the SLC39A4 gene which encodes a zinc transporter; disease is thought to result from zinc deficiency. Similar mutations have been reported previously; however, the variable severity within cases carrying the p.Gly512Trp variant and in AE overall led us to hypothesise that additional genetic modifiers may be contributing to the disease phenotype. Therefore whole genome sequencing was carried out in five family members, for whom material was available to search for additional modifiers of AE; th

SUBMITTER: Abu-Duhier F 

PROVIDER: S-EPMC6106946 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature