Identification of a novel mutation in the SRY gene in a 46, XY female patient

L. Baghernajad Salehi, O. Scarciolla, G. Frajese Vanni, A. M. Nardone, G. Frajese, G. Novelli, L. Stuppia

Research output: Contribution to journal › Article

Abstract

Background: The SRY gene encodes for a testis-specific transcription factor (TDF, testis determining factor) that plays a key role in sexual differentiation and development in males. Several SRY mutations have been described in patients with gonadal dysgenesis, accounting for 10-15% of the sex reversal cases. The reported mutations are both point mutations and deletions, mostly involving the high mobility group (HMG) box domain of SRY, which is a conserved region through the evolution, suggesting that SRY function strictly depends on the HMG box. Case presentation: Here we describe the clinical, endocrinological and molecular data of a patient with complete 46, XY gonadal dysgenesis caused by SRY mutation located within the conserved HMG box. Using DNA direct sequencing of the SRY coding region, we identified a single nucleotide insertion at codon 89 with subsequent frameshift of the reading frame sequence, which results in a truncated protein as consequence of an introduction of a stop codon at the position 103. Conclusion: A novel SRY mutation has been described in a female with a gonadal dysgenesis associated with a 46, XY karyotype. The described case is of importance for genetic counseling.

Original languageEnglish
Pages (from-to)494-498
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume49
Issue number6
DOIs
Publication statusPublished - Nov 2006

Fingerprint

Gonadal Dysgenesis
Mutation
Genes
HMG-Box Domains
Sex-Determining Region Y Protein
46,XY Gonadal Dysgenesis
Reading Frames
Sex Differentiation
Sexual Development
Terminator Codon
Genetic Counseling
Karyotype
DNA Sequence Analysis
Point Mutation
Codon
Testis
Transcription Factors
Nucleotides
XY female 46
Proteins

Keywords

  • SRY gene
  • Swyer, TDF, testis determining factor

ASJC Scopus subject areas

  • Genetics

Cite this

Salehi, L. B., Scarciolla, O., Vanni, G. F., Nardone, A. M., Frajese, G., Novelli, G., & Stuppia, L. (2006). Identification of a novel mutation in the SRY gene in a 46, XY female patient. European Journal of Medical Genetics, 49(6), 494-498. https://doi.org/10.1016/j.ejmg.2006.03.003

Identification of a novel mutation in the SRY gene in a 46, XY female patient. / Salehi, L. Baghernajad; Scarciolla, O.; Vanni, G. Frajese; Nardone, A. M.; Frajese, G.; Novelli, G.; Stuppia, L.

In: European Journal of Medical Genetics, Vol. 49, No. 6, 11.2006, p. 494-498.

Research output: Contribution to journal › Article

Salehi, LB, Scarciolla, O, Vanni, GF, Nardone, AM, Frajese, G, Novelli, G & Stuppia, L 2006, 'Identification of a novel mutation in the SRY gene in a 46, XY female patient', European Journal of Medical Genetics, vol. 49, no. 6, pp. 494-498. https://doi.org/10.1016/j.ejmg.2006.03.003
Salehi LB, Scarciolla O, Vanni GF, Nardone AM, Frajese G, Novelli G et al. Identification of a novel mutation in the SRY gene in a 46, XY female patient. European Journal of Medical Genetics. 2006 Nov;49(6):494-498. https://doi.org/10.1016/j.ejmg.2006.03.003
Salehi, L. Baghernajad ; Scarciolla, O. ; Vanni, G. Frajese ; Nardone, A. M. ; Frajese, G. ; Novelli, G. ; Stuppia, L. / Identification of a novel mutation in the SRY gene in a 46, XY female patient. In: European Journal of Medical Genetics. 2006 ; Vol. 49, No. 6. pp. 494-498.
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AB - Background: The SRY gene encodes for a testis-specific transcription factor (TDF, testis determining factor) that plays a key role in sexual differentiation and development in males. Several SRY mutations have been described in patients with gonadal dysgenesis, accounting for 10-15% of the sex reversal cases. The reported mutations are both point mutations and deletions, mostly involving the high mobility group (HMG) box domain of SRY, which is a conserved region through the evolution, suggesting that SRY function strictly depends on the HMG box. Case presentation: Here we describe the clinical, endocrinological and molecular data of a patient with complete 46, XY gonadal dysgenesis caused by SRY mutation located within the conserved HMG box. Using DNA direct sequencing of the SRY coding region, we identified a single nucleotide insertion at codon 89 with subsequent frameshift of the reading frame sequence, which results in a truncated protein as consequence of an introduction of a stop codon at the position 103. Conclusion: A novel SRY mutation has been described in a female with a gonadal dysgenesis associated with a 46, XY karyotype. The described case is of importance for genetic counseling.

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