A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and Sertoli cell tumor.
In a 60-year-old woman with complete androgen insensitivity syndrome (CAIS) and Sertoli cell tumor, a germline mutation (A870E) in exon 8 of the androgen receptor (AR) gene could be detected. A sister of the patient was also affected by CAIS and developed a Sertoli cell tumor at age 56. The mutation has not been described so far and could be seen in a causal relationship with the development of this tumor.
Knoke
I
I
Institut für Humangenetik, Universitätsklinikum Magdeburg, Germany.
Jakubiczka
S
S
Ottersen
T
T
Göppinger
A
A
Wieacker
P
P
D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011944:Receptors, Androgen / Q000235:genetics*; D012707:Sertoli Cell Tumor / Q000235:genetics*
D011944:Receptors, Androgen