Abstract: Abstract: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive genetic disease caused by the mutation in the androgen receptor (AR). The complete androgen insensitivity syndrome (CAIS) is one of the most severe forms of androgen resistance in AIS. In this paper, the next-generation sequencing of AR gene in a family with CAIS was analyzed. It was found the proband carried one c.2566C>T mutation located on the seventh exon, which led to the replacement of a arginine (Arg) codon (CGC) with a cysteine (Cys) codon (TGC) at amino acid position 856 (p.Arg856Cys). The mutations may interfere with the binding of androgen to the AR, which may lead to impair its activity and then result in CAIS. CAIS was an X-linked recessive disease, Sanger sequencing confirmed that the proband’s mother and sister also showed the same mutation. The proband and her sister carried a homozygous mutations, and her mother carried a heterozygous mutation. The authors believed that the AR gene c.2566C>T (p.Arg856Cys) mutation caused the sisters to suffer from CAIS, which was inherited from their mother. The defined mutation of the AR gene can provide guidance for the family reproduction.

Key words: receptors, androgen, point mutation, complete androgen insensitivity syndrome, genetic diagnosis