Detection of c.G2194A mutation in \(\textit{AR}\) gene of a vietnamese patient with androgen insensitivity syndrome: a case report

Androgen insensitivity syndrome (AIS) is a rare X-linked recessive androgen receptor (AR) disorder. However, the overlap in clinical manifestations between AIS and other disorders of sex development can cause diagnostic difficulties. Applying whole coding region sequencing method an optimal for diagnosis AIS. In this study, whole-exome was performed to screen mutations AR gene as well genes related (DSD). Sanger applied validate patient. One missense mutation which reported previously identified site, nucleotide G changed A at position 2194 on cDNA (c.G2194A), leading substitution aspartic 732 asparagine (p.Asp732Asn). first published case Vietnamese with mutation. Our study expands spectrum patients confirms usefulness The results are basis supporting doctors prenatal giving reasonable advice families.