TBX6, LHX1 and copy number variations in the complex genetics of Mullerian aplasia.

ABSTRACT:

Background

Müllerian aplasia (MA) is a congenital disorder of the female reproductive tract with absence of uterus and vagina with paramount impact on a woman's life. Despite intense research, no major genes have been found to explain the complex genetic etiology.

Methods and results

We have used several genetic methods to study 112 patients with MA. aCGH identified CNVs in 8/50 patients (16%), including 16p11.2 and 17q12 deletions previously associated with MA. Subsequently, another four patients were shown to carry the ~0.53 Mb deletion in 16p11.2. More importantly, sequencing of TBX6, residing within 16p11.2, revealed two patients carrying a splice site mutation. Two previously reported TBX6 variants in exon 4 and 6 were shown to have a significantly higher frequency in p

SUBMITTER: Sandbacka M 

PROVIDER: S-EPMC3847609 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature