Prenatal Diagnosis of Twin Fetuses with a Novel AR Gene Mutation in a Chinese Family of Complete Androgen Insensitivity Syndrome. (2nd November 2017)

• Record Type: Journal Article
• Authors: Wu, Weiqing; Geng, Qian; Liu, Yang; Xu, Zhiyong; Li, Peining; Xie, Jiansheng
• Is Part Of: Fetal and pediatric pathology. Volume 36:Number 6(2017)
• Page Start: 432
• Page End: 436
• Publication Date: 2017-11-02
• Subjects: Complete androgen insensitivity syndrome (CAIS) -- Androgen receptor (AR) gene -- prenatal diagnosis -- twin fetuses; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2017.1332120
• Languages: English
• ISSNs: 1551-3815

Abstract

ABSTRACT: 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.