Copy number variation and regions of homozygosity analysis in patients with MULLERIAN aplasia

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Eksi D. D., SHEN Y., ERMAN M., CHORICH L. P., SULLIVAN M. E., BILEKDEMIR M., ...More

MOLECULAR CYTOGENETICS, vol.11, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11
  • Publication Date: 2018
  • Doi Number: 10.1186/s13039-018-0359-3
  • Journal Name: MOLECULAR CYTOGENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Mullerian aplasia, Mayer-Rokitansky-Kuster-Hauser syndrome, MRKH, Congenital absence of the uterus and vagina, Copy number variant, CNV, Candidate gene, Regions of homozygosity, ROH, KUSTER-HAUSER-SYNDROME, FUNCTIONAL-ANALYSIS, CANDIDATE GENES, TRANSLOCATION, GENETICS, MUTATION, FEMALE, WOMEN, MRKH, IDENTIFICATION
  • Open Archive Collection: AVESIS Open Access Collection
  • Akdeniz University Affiliated: Yes

Abstract

Background: Little is known about the genetic contribution to Mullerian aplasia, better known to patients as Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Mutations in two genes (WNT4 and HNF1B) account for a small number of patients, but heterozygous copy number variants (CNVs) have been described. However, the significance of these CNVs in the pathogenesis of MRKH is unknown, but suggests possible autosomal dominant inheritance. We are not aware of CNV studies in consanguineous patients, which could pinpoint genes important in autosomal recessive MRKH. We therefore utilized SNP/CGH microarrays to identify CNVs and define regions of homozygosity (ROH) in Anatolian Turkish MRKH patients.