title: A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome.
abstract: Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder with a normal 46, XY karyotype caused by abnormality of the androgen receptor (AR) gene. One Chinese family consisting of the proband and 5 other members with complete androgen insensitivity syndrome (CAIS) was investigated. Mutation analysis by DNA sequencing on all 8 exons and flanking intron regions of the AR gene revealed a unique large deletion/insertion mutation in the family. A 287 bp deletion and 77 bp insertion (c.933_1219delins77) mutation at codon 312 resulted in a frameshift which caused a premature stop (p.Phe312Aspfs*7) of polypeptide formation. The proband's mother and grandmother were heterozygous for the mutant allele. The proband's father, uncle and grandfather have the normal allele. From the pedigree constructed from mutational analysis of the family, it is revealed that the probably pathogenic mutation comes from the maternal side.
authors.affiliation: Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
authors.forename: Peikuan
authors.initials: P
authors.lastname: Cong
authors.forename: Yinghui
authors.initials: Y
authors.lastname: Ye
authors.forename: Yue
authors.initials: Y
authors.lastname: Wang
authors.forename: Lingping
authors.initials: L
authors.lastname: Lu
authors.forename: Jing
authors.initials: J
authors.lastname: Yong
authors.forename: Ping
authors.initials: P
authors.lastname: Yu
authors.forename: Kimani Kagunda
authors.initials: KK
authors.lastname: Joseph
authors.forename: Fan
authors.initials: F
authors.lastname: Jin
authors.forename: Ming
authors.initials: M
authors.lastname: Qi
mesh_terms: D000595:Amino Acid Sequence; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D000728:Androgens / Q000378:metabolism*; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D056726:Genetic Association Studies; D008040:Genetic Linkage; D006801:Humans; D054643:INDEL Mutation; D059785:Karyotype; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011944:Receptors, Androgen / Q000235:genetics* / Q000378:metabolism; D017422:Sequence Analysis, DNA
chemical_list: D000728:Androgens; D011944:Receptors, Androgen