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| Cunha,J.L.; Soardi,F.C.; Bernardi,R.D.; Oliveira,L.E.C.; Benedetti,C.E.; Guerra-Junior,G.; Maciel-Guerra,A.T.; de Mello,M.P.. |
| Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box) required for DNA binding. Mutations in the SRY HMG-box affect protein function, causing sex reversal phenotypes. In the present study, we describe a 19-year-old female presenting 46,XY karyotype with hypogonadism and primary amenorrhea that led to the diagnosis of 46,XY complete gonadal dysgenesis. The novel p.E89K missense mutation in the SRY HMG-box was identified as a de novo mutation. Electrophoretic mobility shift assays showed that p.E89K almost completely abolished SRY DNA-binding activity, suggesting that it is the cause of SRY function impairment. In addition, we report the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gonadal dysgenesis; HMG-box; Missense mutation; Sex reversal SRY; Streak gonads; Testis determination. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400014 |
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