[Analysis of AR gene variant in an infant with complete androgen insensitivity syndrome]

To detect potential variant of AR gene in an infant with complete androgen insensitivity syndrome.

The coding regions and splicing sites of the AR gene were subjected to PCR amplification and direct DNA sequencing. Fluorescence quantitative PCR was also used to detect copy number alterations of exons 2 to 8 of the AR gene.

Deletion of exons 2 to 8 was detected in the proband, and the results were verified among the family members.

Hemizygotic deletion of exons 2 to 8 of the AR gene probably underlies the complete androgen insensitivity syndrome in this infant.