A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis.
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.
Servicio de Genetica, Hospital General de Mexico-Facultad de Medicina, UNAM, Mexico, D.F., Mexico.
J C
JC
Zenteno
S
S
Carranza-Lira
A L
AL
Jiménez
S
S
Kofman
D000293:Adolescent; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D024282:Genes, sry / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D004247:DNA