Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population.

ABSTRACT:

Background

Bone morphogenetic protein 4 gene (BMP4) plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP) and BMP4 polymorphisms by detecting transmission deviations for haplotypes that include a region containing a BMP4 promoter in case-parent trios. The aim of the present study was to search for possible causal mutations within BMP4 promoters (BMP4.1 and BMP4.2).

Methods

We analyzed the sequence of BMP4.1 and BMP4.2 in 167 Chilean NSCLP cases and 336 controls.

Results

We detected three novel variants in BMP4.1 (c.-5514G > A, c.-5365C > T and c.-5049C > T) which could be considered as

SUBMITTER: Suazo J 

PROVIDER: S-EPMC3276445 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature