A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral.

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A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia Vikas Sharma, Ph.D., Rajender Singh, Ph.D., Kumarasamy Thangaraj, Ph.D., Akka Jyothy, Ph.D. Fertility and Sterility Volume 95, Issue 2, Pages 804.e19-804.e21 (February 2011) DOI: 10.1016/j.fertnstert.2010.08.015 Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Pedigree of a family with complete androgen insensitivity syndrome (CAIS), and an electropherogram of exon-3 region of the androgen receptor (AR) gene showing the mutation. Individuals with CAIS are designated by a black circle. The first three siblings have the mutant allele A (arrow) at the nucleotide position 2205. The mother has the heterozygote allele C/A. The father and the last sibling in this pedigree have the wild-type allele C. Fertility and Sterility 2011 95, 804.e19-804.e21DOI: (10.1016/j.fertnstert.2010.08.015) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions