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

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WILLIAMS L. S., EKSI D. D., Shen Y., LOSSIE A. C., CHORICH L. P., SULLIVAN M. E., ...More

FERTILITY AND STERILITY, vol.108, no.1, pp.145-153, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 108 Issue: 1
  • Publication Date: 2017
  • Doi Number: 10.1016/j.fertnstert.2017.05.017
  • Journal Name: FERTILITY AND STERILITY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.145-153
  • Keywords: Mullerian aplasia, MRKH, reproductive genetics, congenital absence of the uterus and vagina, gene mutation, FOLLICLE-STIMULATING-HORMONE, FEMALE REPRODUCTIVE-TRACT, HYPOGONADOTROPIC HYPOGONADISM, MULLERIAN APLASIA, MEDICAL GENETICS, DELAYED PUBERTY, MRKH SYNDROME, BETA-SUBUNIT, MUTATION, LHX1
  • Open Archive Collection: AVESIS Open Access Collection
  • Akdeniz University Affiliated: Yes

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.