A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome.

ABSTRACT:

Background

Nail-patella syndrome (NPS) is an autosomal dominant developmental disorder most commonly characterized by dyplasia of nail or patella, the radial head or the humeral head hypoplasia, and, frequently ocular abnormalities and renal disease. It is caused by heterozygous loss-of-function mutations in the LMX1B gene, which encodes LIM homeodomain transcription factor and is essential for regulating the dorsal limb fate.

Methods

A five generation pedigree was recruited. Genomic DNA was extracted from the peripheral blood samples. Mutation detection was performed by Sanger sequencing the LMX1B gene. In silico functional annotation of the variant was performed using the in silico predictors SIFT, PolyPhen-2 and Mutation Taster.

Results

A novel heterozygous small d

SUBMITTER: Yan X 

PROVIDER: S-EPMC6499979 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature