Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine

Abstract

To improve diagnostic informativity of AR gene mutation analysis in patients with AIS, we recommend to include novel identified missense mutation c.2507T>G in the list of AIS-causing mutations.

Keywords: androgen insensitivity syndrome; androgen receptor; bioinformatics; ligand binding domain; pathogenic mutation.