A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.

ABSTRACT:

Background

Woolly hair (WH) is a hair abnormality that is primarily characterised by tightly curled hair with abnormal growth.

Methods

In two unrelated consanguineous Pakistani families with non-syndromic autosomal recessive (AR) WH, homozygosity mapping and linkage analysis identified a locus within 17q21.1-q22, which contains the type I keratin gene cluster. A DNA sample from an affected individual from each family underwent exome sequencing.

Results

A homozygous missense variant c.950T>C (p.(Leu317Pro)) within KRT25 segregated with ARWH in both families, and has a combined maximum two-point LOD score of 7.9 at ϴ=0. The KRT25 variant is predicted to result in disruption of the second α-helical rod domain and the entire protein structure, thus possibly interfering wi

SUBMITTER: Ansar M 

PROVIDER: S-EPMC5090258 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature