Analysis of androgen receptor gene mutation in complete androgen insensitivity syndrome in a Uygur family

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To identify the mutation of androgen receptor (AR) gene in a Uygur family with complete androgen insensitivity syndrome and elucidate its pathogenesis. Two males with pseudohermaphroditism in this family were clinically diagnosed complete androgen insensitivity syndrome and by polymerase chain reaction (PCR) and DNA sequencing, we checked possible mutation of all exons and its splice site in AR gene. Two males with pseudohermaphroditism in this family were clinically diagnosed as complete androgen insensitivity syndrome and confirmed by PCR and DNA sequencing. And the possible mutations of all exons and splice sites in AR gene were examined. A proband and another family member had c.2157G > A, p.W719X nonsense mutation of AR gene and their mother was a mutation carrier of AR gene. Substitution (G- > A) at position 2 157 of exon 4 of AR resulted in mutation (TGG- > TGA) at codon 719 (termination codon). The nonsense mutation led to a truncation of 202 amino acids in AR protein. The mutations were absent in other family members. The nonsense mutation at AR gene W719X, a confirmed cause of disease, is first-ever found in Chinese, especially Uygur population.