Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders.

ABSTRACT:

Background

Orofacial clefts are the most common malformations of the head and neck, with a worldwide prevalence of 1 in 700 births. They are commonly divided into CL(P) and CP based on anatomic, genetic, and embryologic findings. A Nigerian craniofacial anomalies study (NigeriaCRAN) was set up in 2006 to investigate the role of gene-environment interaction in the origin of orofacial clefts in Nigeria.

Subjects and methods

DNA isolated from saliva from Nigerian probands was used for genotype association studies and direct sequencing of cleft candidate genes: MSX1 , IRF6 , FOXE1, FGFR1 , FGFR2 , BMP4 , MAFB, ABCA4 , PAX7, and VAX1 , and the chromosome 8q region.

Results

A missense mutation A34G in MSX1 was observed in nine cases and four HapMap controls. No other appare

SUBMITTER: Butali A 

PROVIDER: S-EPMC3206991 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature