New mutation identified in the SRY gene high mobility group (HMG) Sry genı high mobility group (HMG) bölges ınde tanimlanan yenı mutasyon

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Şahin F. i., Esi S., CEYLANER G., Emin E. K., Enver O. Ö., Terzi Y. K., ...More

Turk Jinekoloji ve Obstetrik Dernegi Dergisi, vol.10, no.2, pp.118-121, 2013 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 10 Issue: 2
  • Publication Date: 2013
  • Doi Number: 10.5505/tjod.2013.37233
  • Journal Name: Turk Jinekoloji ve Obstetrik Dernegi Dergisi
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.118-121
  • Keywords: amenorrhea, gonadal dysgenesis, HMG box, SRY gene, Swyer syndrome
  • Lokman Hekim University Affiliated: No

Abstract

Mutations in the SRY gene prevent the differentiation of the fetal gonads to testes and cause development of a female phenotype, and as a result sex reversal and pure gonadal dysgenesis (Swyer syndrome) can be developed. Different types of mutations identified in the SRY gene are responsible for 15% of the gonadal dysgenesis cases. In this study, we report a new mutation (p.Arg132Pro) in the High Mobility Group (HMG) region of SRY gene detected in a patient with primary amenorrhea who has 46,XY karyotype. This mutation leads to replacement of the polar and basic arginine with a nonpolar hydrophobic proline residue at aminoacid 132 in the nuclear localization signal region of the protein. With this case report we want to emphasize the genetic approach to the patients with gonadal dysgenesis. If Y chromosome is detected during cytogenetic analysis, revealing the presence of SRY gene and identification of mutations in this gene by sequencing analysis is important.