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

Creative Commons License

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

FERTILITY AND STERILITY, cilt.108, sa.1, ss.145-153, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 108 Sayı: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.fertnstert.2017.05.017
  • Dergi Adı: FERTILITY AND STERILITY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.145-153
  • Anahtar Kelimeler: 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
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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.