Article
The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Apr 2011
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
Abstract excerpt
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...
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