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A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis
J C Zenteno1, S Carranza-Lira, A L Jiménez
1Servicio de Genetica, Hospital General de Mexico-Facultad de Medicina, UNAM, Mexico, D.F., Mexico.
Abstract:
The sex-determining region of the Y chromosome (SRY) gene initiates the process of male sex differentiation in mammalians. In humans, mutations in the SRY gene have been reported to account for 10-15% of the XY sex reversal cases. In this report we describe the clinical, endocrinological and molecular data of a patient with complete 46,XY gonadal dysgenesis caused by a de novo mutation affecting SRY amino acid phenylalanine at position 67 (F67L), located within the highly conserved high mobility group (HMG) box coding region of the gene.
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