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.