title: Molecular analysis of familial androgen insensitivity syndrome due to replacement of glutamic acid 802 by lysine.
abstract: We studied a Japanese family presenting at least two cases of complete androgen insensitivity syndrome (CAIS) and negative androgen receptor binding. The index subject showed a 46, XY karyotype and a complete female phenotype. For the purpose of further diagnosis and genetic counseling, molecular analysis of the androgen receptor (AR) gene was performed. Direct sequencing of the AR gene identified a mutation at nucleotide 2935 (A-->G). This replacement was a novel missense mutation, resulting in the substitution of glutamic acid 802 by lysine which deleted a recognition site for EcoRI in exon 6 of the AR gene. We identified another affected individual, using chromosome and molecular analysis of the AR gene at exon 6. Furthermore, although heterozygote carriers could not be identified on clinical grounds, molecular identification of healthy individuals and heterozygote carriers in the family members provided definitive information for genetic counseling. We believe that the molecular analysis of familial CAIS is very informative for both the affected individuals and other family members.
authors.affiliation: Laboratory of Developmental Biology and Reproduction, Institute for Advanced Medical Sciences, Hyogo College of Medicine, Nishinomiya, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Sawai
authors.forename: S
authors.initials: S
authors.lastname: Komori
authors.forename: K
authors.initials: K
authors.lastname: Sakata
authors.forename: K
authors.initials: K
authors.lastname: Nakae
authors.forename: H
authors.initials: H
authors.lastname: Shima
authors.forename: F
authors.initials: F
authors.lastname: Matsumoto
authors.forename: H
authors.initials: H
authors.lastname: Matsumoto
authors.forename: Y
authors.initials: Y
authors.lastname: Onishi
authors.forename: Y
authors.initials: Y
authors.lastname: Okada
authors.forename: O
authors.initials: O
authors.lastname: Yoshida
authors.forename: K
authors.initials: K
authors.lastname: Koyama
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D000728:Androgens / Q000378:metabolism; D005091:Exons; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D008239:Lysine / Q000235:genetics; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D011944:Receptors, Androgen / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: D000728:Androgens; D011944:Receptors, Androgen; D018698:Glutamic Acid; D008239:Lysine