title: Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China.
abstract: A variety of mutations in the androgen receptor (AR) gene are linked to androgen insensitivity syndrome (AIS) or sexual development disorder. Here, we studied 15 patients with various degrees of disorders of genital hypoplasia from South China. Clinical data including basal hormone level, phenotype, karyotyping and SRY gene identification were documented. Exons with flanking intronic region of the AR gene were sequenced and analysed for mutations, and a total of eight mutations were identified in the AR gene. Of eight mutations, two novel mutations c.2518G>T (p.Asp840Tyr) and c.1186G>C (p.Gly396Arg) were predicted to be damaging by SIFT and Polyphen2 online software. Previously reported mutations: c.528C>A (p.Ser176Arg), c.1789G>A (p.Ala597Thr), c.2612C>T (p.Ala871Val), c.1752C>A (p.Phe584Leu), c.171_172insCTG (p.57_58insLeu) and c.2659A>G (p.Met887Val) were also detected in our subjects. Most of them are involved in hypospadias, penis dysplasia or other disorders of sexual development. A complete AIS case (p.Phe584Leu) with female phenotype and high serum concentrations of dihydrotestosterone (DHT) was also found. This study presented a wide range of spectrum of AIS (from partial AIS to complete AIS) caused by AR mutations in South China population. It suggests that further study with larger data set need to be performed to elucidate the differences of the phenotypes in our study.
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: L
authors.initials: L
authors.lastname: Su
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: J
authors.initials: J
authors.lastname: Cheng
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: X
authors.initials: X
authors.lastname: Yin
authors.affiliation: Department of Pediatric Urology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: G
authors.initials: G
authors.lastname: Liu
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Lu
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: H
authors.initials: H
authors.lastname: Sheng
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Cai
authors.affiliation: Department of Pathology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: Q
authors.initials: Q
authors.lastname: Shi
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: L
authors.initials: L
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis* / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011944:Receptors, Androgen / Q000235:genetics*
chemical_list: D011944:Receptors, Androgen
keywords: androgen insensitivity syndrome; androgen receptor; disorders of sex development; gene mutation