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 language | English |
|---|---|
| Pages (from-to) | 494-498 |
| Number of pages | 5 |
| Journal | European Journal of Medical Genetics |
| Volume | 49 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Nov 2006 |
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Keywords
- SRY gene
- Swyer, TDF, testis determining factor
ASJC Scopus subject areas
- Genetics
Cite this
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
}
TY - JOUR
T1 - Identification of a novel mutation in the SRY gene in a 46, XY female patient
AU - Salehi, L. Baghernajad
AU - Scarciolla, O.
AU - Vanni, G. Frajese
AU - Nardone, A. M.
AU - Frajese, G.
AU - Novelli, G.
AU - Stuppia, L.
PY - 2006/11
Y1 - 2006/11
N2 - 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.
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.
KW - SRY gene
KW - Swyer, TDF, testis determining factor
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UR - http://www.scopus.com/inward/citedby.url?scp=33845921573&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2006.03.003
DO - 10.1016/j.ejmg.2006.03.003
M3 - Article
VL - 49
SP - 494
EP - 498
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 6
ER -