title: A novel nonsense mutation in the androgen receptor gene causes the complete androgen insensitivity syndrome.
abstract: We identified an unusual novel nonsense mutation in exon 3 of the androgen receptor (AR) gene in a patient with complete androgen insensitivity that was persistence of Wolffian derivatives. Sequence analysis revealed a substitution (C→T) at position 2211 and a deletion of G at position 2213 in exon 3 of the AR gene, resulting in the conversion of arginine(CGG) to a stop codon (TGA) of the AR. Western blotting demonstrated a truncated AR with around 70 kd was expressed. Histology of patient's testes showed that seminiferous tubules were totally filled with Sertoli cells without germ cells. Immunohistochemistry revealed positive AR localization in the nuclei of Sertoli cells and epithelia of efferent ductule and vas deferens. AR immunoexpression was stronger in the epithelia of efferent ductule and vas deferens than in Sertoli cells. The study extends the spectrum of exon 3 mutations in the AR gene.
authors.affiliation: The Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, 1120 Lianhua Rd, Shenzhen 518036, China.
authors.forename: Xiaoyi
authors.initials: X
authors.lastname: Liu
authors.forename: Jiao
authors.initials: J
authors.lastname: Fu
authors.forename: Zhen
authors.initials: Z
authors.lastname: Cai
authors.forename: Liang
authors.initials: L
authors.lastname: Sun
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Zhang
authors.forename: Zesong
authors.initials: Z
authors.lastname: Li
authors.forename: Ruiying
authors.initials: R
authors.lastname: Diao
authors.forename: Zihui
authors.initials: Z
authors.lastname: Wang
authors.forename: Guangyin
authors.initials: G
authors.lastname: Yu
authors.forename: Zhiming
authors.initials: Z
authors.lastname: Cai
authors.forename: Yaoting
authors.initials: Y
authors.lastname: Gui
mesh_terms: D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D001483:Base Sequence; D018389:Codon, Nonsense; D018388:Codon, Terminator / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D011944:Receptors, Androgen / Q000235:genetics*; D013737:Testis / Q000166:cytology
chemical_list: D018389:Codon, Nonsense; D018388:Codon, Terminator; D011944:Receptors, Androgen