A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis

Richard Kellermayer, László Halvax, Márta Czakó, Mohammad Shahid, Varinderpal S. Dhillon, Syed Akhtar Husain, Norbert Süle, Éva Gömöri, Mariann Mammel, György Kosztolányi

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Pure gonadal dysgenesis or Swyer syndrome is a sex-reversal disorder resulting from embryonic testicular regression sequences especially during the first few weeks of fetal life and is induced by mutations in the SRY gene. In the present report, we describe a nonmosaic XY sex-reversed female with pure gonadal dysgenesis. Molecular analysis using sequential PCR to detect Y chromosomal microdeletions showed the presence of SRY, ZFY and AZFa, b and c regions. Automated sequencing of the SRY region revealed a new mutation (deletion of A (adenine) in codon 82 at position +244), leading to a frame shift mutation within the helix I of the HMG-box domain. This mutation generates a truncated protein and is very likely to produce an impairment of SRY DNA binding activity. The present findings further support the functional importance of the putative DNA binding activity of the SRY HMG-box domain.

Original languageEnglish
Pages (from-to)159-163
Number of pages5
JournalDiagnostic Molecular Pathology
Volume14
Issue number3
DOIs
Publication statusPublished - Sep 1 2005

Keywords

  • Pure gonodal dysgenesis
  • SRY
  • Sex-reversal
  • Swyer syndrome

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology

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