title: Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients.
abstract: Molecular characterization of 23 cytogenetically confirmed XY females was attempted by screening coding regions of SRY and androgen receptor (AR) genes. Five of the index cases showed sequence variations in various exons of the AR gene: a deletion (n.1911delG) and substitutions n.1761G>A and n.1317C>T in exon 1; n.3510C>T transition in exon 6 and deletion mutation (n.3672delT) in exon 7. Four mutations identified here lead to the formation of truncated receptor protein, involving a substantial loss of AR functional domains which explains the phenotype in the subjects. The n.1761G>A substitution has been previously reported in cases with mild androgen insensitivity. Although the ligand-binding domain was considered as the mutational hot spot in AR gene, we report here 3/5 variations in the N-terminal domain emphasizing the significance of considering the N-terminal domain of AR as well for mutation screening. Our present observation also strengthens the role of AR gene and its direct association with AIS.
authors.affiliation: Department of Genetics, Dr. ALMPG Institute of Basic Medical Sciences, University of Madras, Taramani, Chennai 600 113, India. v_santhiya@hotmail.com.
authors.forename: Balachandran
authors.initials: B
authors.lastname: Saranya
authors.forename: Gunasekaran
authors.initials: G
authors.lastname: Bhavani
authors.forename: Brindha
authors.initials: B
authors.lastname: Arumugam
authors.forename: Meena
authors.initials: M
authors.lastname: Jayashankar
authors.forename: Sathiyavedu Thyagarajan
authors.initials: ST
authors.lastname: Santhiya
mesh_terms: D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D056726:Genetic Association Studies; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006728:Hormones / Q000097:blood; D006801:Humans; D059785:Karyotype; D008297:Male; D009154:Mutation; D010641:Phenotype; D011944:Receptors, Androgen / Q000235:genetics*; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D055815:Young Adult
chemical_list: D006728:Hormones; D011944:Receptors, Androgen; D051876:Sex-Determining Region Y Protein