Identification of a novel mutation in the SRY gene in a 46, XY female patient
| Autor: | G. Frajese, Giuseppe Novelli, G. Frajese Vanni, O. Scarciolla, L. Baghernajad Salehi, Liborio Stuppia, Anna Maria Nardone |
|---|---|
| Rok vydání: | 2006 |
| Předmět: |
Male
Adolescent Molecular Sequence Data Gonadal dysgenesis Biology medicine.disease_cause Frameshift mutation XY gonadal dysgenesis Genetics medicine Humans Amino Acid Sequence Genes sry Frameshift Mutation Genetics (clinical) Gonadal Dysgenesis 46 XY Mutation Base Sequence Point mutation General Medicine DNA medicine.disease Stop codon Sex-Determining Region Y Protein Testis determining factor High-mobility group Female |
| Zdroj: | European journal of medical genetics. 49(6) |
| ISSN: | 1769-7212 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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