A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.

ABSTRACT:

Background

Ectodermal dysplasias are developmental disorders affecting tissues of ectodermal origin. To date, four different types of ectodermal dysplasia involving only hair and nails have been described. In an effort to understand the molecular bases of this form of ectodermal dysplasia, large Pakistani consanguineous kindred with multiple affected individuals has been ascertained from a remote region in Pakistan.

Objective

To identify the gene underlying the phenotype.

Methods

Microsatellite markers were genotyped in candidate regions and two point and multipoint parametric linkage analysis carried out.

Results

The disease locus was mapped to a 16.6 centimorgan region on chromosome 12q12-q14.1 (Zmax = 8.2), which harbours six type II hair keratin genes. DNA

SUBMITTER: Naeem M 

PROVIDER: S-EPMC2563238 | biostudies-literature | 2006 Mar

REPOSITORIES: biostudies-literature