title: A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis.
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.
authors.affiliation: Department of Medical Genetics, University of Pécs, Pécs, Hungary. richard.kellermayer@aok.pte.hu
authors.forename: Richard
authors.initials: R
authors.lastname: Kellermayer
authors.forename: László
authors.initials: L
authors.lastname: Halvax
authors.forename: Márta
authors.initials: M
authors.lastname: Czakó
authors.forename: Mohammad
authors.initials: M
authors.lastname: Shahid
authors.forename: Varinderpal S
authors.initials: VS
authors.lastname: Dhillon
authors.forename: Syed Akhtar
authors.initials: SA
authors.lastname: Husain
authors.forename: Norbert
authors.initials: N
authors.lastname: Süle
authors.forename: Eva
authors.initials: E
authors.lastname: Gömöri
authors.forename: Mariann
authors.initials: M
authors.lastname: Mammel
authors.forename: György
authors.initials: G
authors.lastname: Kosztolányi
mesh_terms: D000293:Adolescent; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D024282:Genes, sry / Q000235:genetics*; D056426:Genetic Loci; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006066:Gonads / Q000473:pathology; D024742:HMG-Box Domains / Q000235:genetics*; D006801:Humans; D051741:Kruppel-Like Transcription Factors; D029589:Seminal Plasma Proteins / Q000235:genetics; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D051741:Kruppel-Like Transcription Factors; D029589:Seminal Plasma Proteins; D014157:Transcription Factors; C054430:ZFY protein, human; D004247:DNA