Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.

ABSTRACT:

Objective

To study the genetic cause of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). Although a few candidate genes and genomic domains for have been reported for MRKH, the genetic underpinnings remain largely unknown. Some of the top candidate genes are WNT4, HNF1B, and LHX1. The goals of this study were to: 1) determine the prevalence of WNT4, HNF1B, and LHX1 point mutations, as well as new copy number variants (CNVs) in people with MRKH; and 2) identify and characterize MRKH cohorts.

Design

Laboratory- and community-based study.

Setting

Academic medical centers.

Patient(s)

A total of 147 MRKH probands and available family members.

Interventions(s)

DNA sequencing of WNT4, HNF1B, and LHX1 in 100 MRKH patients, chromosomal microarray analysis in 31 No

SUBMITTER: Williams LS 

PROVIDER: S-EPMC5770980 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature