A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant

Kok-Siong Poon; Karen Mei-Ling Tan; Kah Yin Loke

doi:10.1038/s41439-021-00167-5

A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant

Hum Genome Var. 2021 Sep 1;8(1):35. doi: 10.1038/s41439-021-00167-5.

Authors

Kok-Siong Poon¹, Karen Mei-Ling Tan², Kah Yin Loke³

Affiliations

¹ Department of Laboratory Medicine, National University Hospital, Singapore, Singapore. kok_siong_poon@nuhs.edu.sg.
² Department of Laboratory Medicine, National University Hospital, Singapore, Singapore.
³ Division of Paediatric Endocrinology, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute, National University Hospital, Singapore, Singapore.

Abstract

An infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. Capillary sequencing of the androgen receptor (AR) gene identified a hemizygous de novo mutation (NM_000044.6:c.1621G > T) in exon 2 resulting in a termination codon p.(Glu541*) at the DNA binding domain (DBD). This novel nonsense mutation adds to the compendium of AR mutations which result in complete androgen insensitivity syndrome (AIS).