Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.

ABSTRACT:

Purpose

Nail-Patella syndrome is a dominantly inherited genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis. Nail abnormalities are the most constant feature of Nail-Patella syndrome. Pathogenic mutations in a single gene, LMX1B, a mesenchymal determinant of dorsal-ventral patterning, explain approximately 95% of Nail-Patella syndrome cases. However, 5% of cases remain unexplained.

Methods

Here, we present exome sequencing and analysis of four generations of a family with a dominantly inherited Nail-Patella-like disorder (nail dysplasia with some features of Nail-Patella syndrome) who tested negative for LMX1B mutation.

Results

We identify a loss-of-function mutation in WIF1 (NM_007191 p.W15*), which is involved in mesoderm segmenta

SUBMITTER: Jones MC 

PROVIDER: S-EPMC5629099 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature