Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

ABSTRACT:

Background

Nonphotosensitive trichothiodystrophy (TTDN) is a rare autosomal recessive disorder of neuroectodermal origin. The condition is marked by hair abnormalities, intellectual impairment, nail dystrophies and susceptibility to infections but with no UV sensitivity.

Methods

We identified three consanguineous Pakistani families with varied TTDN features and used homozygosity mapping, linkage analysis, and Sanger and exome sequencing in order to identify pathogenic variants. Haplotype analysis was performed and haplotype age estimated. A splicing assay was used to validate the effect of the MPLKIP splice variant on expression.

Results

Affected individuals from all families exhibit several TTDN features along with a heart-specific feature, i.e. mitral regurgitation.

SUBMITTER: Shah K 

PROVIDER: S-EPMC4754937 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature