A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome

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• 作者：Peikuan Cong^a ; Yinghui Ye^b ; Yue Wang^c ; Lingping Lu^a ; Jing Yong^a ; Ping Yu^a ; Kimani Kagunda Joseph^a ; Fan Jin^b ; ^{jinfan@zju.edu.cn} ; Ming Qi^a ; ^d ; ^e ; ^{ming_qi@urmc.rochester.edu}
• 关键词：AIS ; Androgen insensitivity syndrome ; AR ; androgen receptor ; BLAST ; Basic Local Alignment Search Tool ; CAIS ; complete androgen insensitivity syndrome ; DBD ; DNA-binding domain ; LBD ; ligand-binding domain ; NTD ; N-terminal domain ; PAIS ; partial androgen inse
• 刊名：Gene
• 出版年：2012
• 期刊代码：73_03781119
• 类别：bio
• 出版时间：1 June, 2012
• 卷：500
• 期：2
• 页码：220-223
• 文件大小：502 K

摘要

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.