• PMID: 21154321
• Gene Name: AR
• Condition: AIS
• Association: The 1910delA mutation of the AR gene is a novel mutation that leads to complete androgen insensitivity syndrome.
• Mutation: AR gene (1910delA) lead to Asn637Ile and Lys638stop
• Population size: 3
• Population details: 3
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: AIS

[A novel deletion mutation in AR gene causes complete androgen insensitivity syndrome in a Chinese family]

Yue L, Wu P, Xia Z, Fan C, Xia Q.

OBJECTIVE: To identify the mutation of the androgen receptor (AR) gene in a complete androgen insensitivity family. METHODS: DNA was extracted from peripheral blood samples from family members in the family. PCR and DNA sequencing were then employed to detect the mutation of AR gene. RESULTS: A single nucleotide deletion of nucleotide A in exon 4 of the AR gene (1910delA) was detected in all the three patients in this family, which lead to Asn637Ile and Lys638stop. This mutation was also found in the mother (heterozygote) but was not observed in the normal controls. CONCLUSION: The 1910delA mutation of the AR gene is a novel mutation that leads to complete androgen insensitivity syndrome. FAU - Yue, Linlin AU - Yue L AD - Department of Nephrology, State Key Laboratory of Biotherapy, West China Hospital, West China Medical School, Sichuan University, Chengdu, Sichuan, P.R. China. FAU - Wu, Ping AU - Wu P FAU - Xia, Zengliang AU - Xia Z FAU - Fan, Chunyuan AU - Fan C