1. A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family 
Karel Decaestecker, M.D., Pascal Philibert, Ph.D., Elfride De Baere, M.D., Ph.D., Piet Hoebeke, M.D., Ph.D., Jean-Marc Kaufman, M.D., Ph.D., Charles Sultan, M.D., Ph.D., Guy T'Sjoen, M.D., Ph.D. 
Fertility and Sterility 
Volume 89, Issue 5, Pages 1260.e e7 (May 2008)
DOI: /j.fertnstert
Copyright © 2008 American Society for Reproductive Medicine Terms and Conditions

2. Figure 1
(A) Pedigree in which two sisters are affected by complete androgen insensitivity syndrome (CAIS). The annotation “DNA” indicates individuals who underwent targeted mutation analysis of AR mutation c.118delA. The triangle indicates “miscarriage,” the rhombus with the letter P indicates “pregnancy with unknown sex.” (B) Sequence electropherograms of [1] a normal female (left); [2] affected 46,XY individual hemizygous for c.118delA (middle), and [3] heterozygous female carrier of c.118delA (right). Arrows indicate the position of nucleotide 118 in reference sequence M (C) The normal AR protein of 919 amino acids is represented on top. It contains an N-terminal transactivation domain (NTD) encoded by exon 1, a DNA-binding domain (DBD), hinge domain and ligand-binding domain (LBD). The amino acid positions are indicated above the rectangle. The predicted effect of AR mutation c.118delA on the protein level is represented at the bottom; this mutation leads to frameshift from residue 40 and a truncated protein of 172 amino acids with loss of the DBD and LBD domain and the majority of the NTD, including the dimerization zone, the transactivation domain AF-1a, and binding sites for GAPDH and NJ. The novel amino acids resulting from the frameshift are represented by diagonal lines.
Fertility and Sterility  , 1260.e e7DOI: ( /j.fertnstert )
Copyright © 2008 American Society for Reproductive Medicine Terms and Conditions