Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report

Figure 1 Pedigree of the family and genetic diagnosis of the subjects. A: Pedigree of the family: The proband (II-1) is indicated by an arrow. Squares represent males and circles represent females. Affected individuals are shown as filled black symbols, and half-filled symbols indicate clinically unaffected subjects carrying a heterozygous variant. Unfilled symbols indicate clinically unaffected subjects harboring the WT AR sequence; B: Genetic diagnosis: Sanger sequencing identified a heterozygous variant (c.2678C>T) in AR. Chromatograms show that the proband (II-1), siblings (II-2 and II-3), and their mother (I-2) harbor a heterozygous c.2678C>T variant of AR. The proband’s father (I-1) was unaffected at this site. Arrows indicate the location of the mutation.

Figure 2 Three-dimensional structure of androgen receptor gene-ligand-binding domain. The ligand-binding domain is composed of 11 α-helices associated with two anti-parallel β-sheets. The α-helices, β-sheets, and loops are colored blue, yellow, and purple, respectively. Wild type and variant residues are colored in red and represented as sticks.

Figure 3 Subcellular localization of androgen receptor gene in human embryo kidney 293T and COS7 cells. HEK-293T and COS7 cells were transfected with the fusion protein expression plasmid pEGFP-androgen receptor gene (AR) wild-type (WT), pEGFP-AR P893L, and the pEGFP-NC control plasmid. Twenty-four hours after transfection, cells were treated with 100 nM T. Laser confocal microscope images show that EGFP-AR WT is distributed in the nucleus (D-F, M-O), but that EGFP-AR P893L could not enter the nucleus so has a uniform distribution in the cytoplasm (G-I, P-R).