Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate.

ABSTRACT:

Background

Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect of complex etiology. Several genes have been implicated in the etiology of NSCL/P, although only a few have been replicated across datasets.

Methods

ARHGAP29 was suggested as a candidate gene for NSCL/P as it is located in close proximity to ABCA4 (1p22), a gene previously identified in a genome-wide association study of NSCL/P.

Results

Rare, potentially damaging, coding variants in ARHGAP29 were found in NSCL/P cases, and its expression was detected during murine craniofacial development. In this study, we investigated whether variations in ARHGAP29 were associated with NSCL/P in our family based dataset. Five single-nucleotide polymorphisms (SNPs) flanking and within ARH

SUBMITTER: Letra A 

PROVIDER: S-EPMC4623315 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature