• PMID: 29206494
• Gene Name: AR
• Condition: Androgen insensitiivty syndrome, Male infertility
• Association: Associated
• Mutation: c.3864T>C (p. Phe917Leu)
• Population size: 1
• Population details: 1 patient with CAIS
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Androgen insensitiivty syndrome, Male infertility

Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome

Wu W, Geng Q, Liu Y, Xu Z, Li P, Xie J.

INTRODUCTION AND AIMS: Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder caused by mutations in the androgen receptor (AR) gene. Only a few cases of AIS with AR gene mutations have been diagnosed prenatally. This study aimed to investigate the gene mutation in a Chinese complete androgen insensitivity syndrome family and perform prenatal diagnosis for twin fetuses. CASE REPORT: We evaluated the AR gene of the child proband in a Chinese CAIS family, and detected a novel mutation c.3864T>C (p. Phe917Leu). Amniocentesis was performed when the mother presented to our hospital with a subsequent twin pregnancy. Mutation analysis revealed that both fetuses were hemizygous for this mutation. The aborted fetuses had typical female external genitalia and bilateral testes in abdomen. CONCLUSION: The c.3864T>C AR novel mutation is responsible for complete androgen insensitivity syndrome, and its identification was subsequently used for a subsequent successful prenatal diagnosis. FAU - Wu, Weiqing AU - Wu W AD - a Shenzhen Maternity and Child Healthcare Hospital, Medical Genetics Center , Shenzhen , China. AD - b Yale School of Medicine , Department of Genetics , New Haven , Connecticut , United States. FAU - Geng, Qian AU - Geng Q AD - a Shenzhen Maternity and Child Healthcare Hospital, Medical Genetics Center , Shenzhen , China. FAU - Liu, Yang AU - Liu Y AD - a Shenzhen Maternity and Child Healthcare Hospital, Medical Genetics Center , Shenzhen , China. FAU - Xu, Zhiyong AU - Xu Z AD - a Shenzhen Maternity and Child Healthcare Hospital, Medical Genetics Center , Shenzhen , China. FAU - Li, Peining AU - Li P AD - b Yale School of Medicine , Department of Genetics , New Haven , Connecticut , United States.