A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.

ABSTRACT:

Objective

Palatal anomalies are one of the identifying features of 22q11.2 deletion syndrome (22q11.2DS) affecting about one third of patients. To identify genetic variants that increase the risk of cleft or palatal anomalies in 22q11.2DS patients, we performed a candidate gene association study in 101 patients with 22q11.2DS genotyped with the Affymetrix genome-wide human SNP array 6.0.

Methods

Patients from Children's Hospital of Philadelphia, USA and Wilhelmina Children's Hospital Utrecht, The Netherlands were stratified based on palatal phenotype (overt cleft, submucosal cleft, bifid uvula). SNPs in 21 candidate genes for cleft palate were analyzed for genotype-phenotype association. In addition, TBX1 sequencing was carried out. Quality control and association analyses w

SUBMITTER: Widdershoven JC 

PROVIDER: S-EPMC4098838 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature