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.
Zenteno
J C
JC
Servicio de Genetica, Hospital General de Mexico-Facultad de Medicina, UNAM, Mexico, D.F., Mexico.
Carranza-Lira
S
S
Jiménez
A L
AL
Kofman
S
S
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