Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida.

ABSTRACT:

Background

Based on studies in animals and humans, PAX3 and T (brachyury) are candidate genes for spina bifida. However, neither gene has been definitively identified as a risk factor for this condition.

Methods

Sanger sequencing was used to identify variants in all PAX3 and T exons and promoter regions in 114 spina bifida cases. For known variants, allele frequencies in cases were compared with those from public databases using unadjusted odds ratios. Novel variants were genotyped in parents and assessed for predicted functional impact.

Results

We identified common variants in PAX3 (n = 2) and T (n = 3) for which the allele frequencies in cases were significantly different from those reported in at least one public database. We also identified novel variants in both

SUBMITTER: Agopian AJ 

PROVIDER: S-EPMC3877942 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature