A novel deletion mutation in AR gene causes complete androgen insensitivity syndrome in a Chinese family / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the mutation of the androgen receptor (AR) gene in a complete androgen insensitivity family.</p><p><b>METHODS</b>DNA was extracted from peripheral blood samples from family members in the family. PCR and DNA sequencing were then employed to detect the mutation of AR gene.</p><p><b>RESULTS</b>A single nucleotide deletion of nucleotide A in exon 4 of the AR gene (1910delA) was detected in all the three patients in this family, which lead to Asn637Ile and Lys638stop. This mutation was also found in the mother (heterozygote) but was not observed in the normal controls.</p><p><b>CONCLUSION</b>The 1910delA mutation of the AR gene is a novel mutation that leads to complete androgen insensitivity syndrome.</p>