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).

Details

Title
A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant
Author
Kok-Siong, Poon 1   VIAFID ORCID Logo  ; Tan, Karen Mei-Ling 1   VIAFID ORCID Logo  ; Loke Kah Yin 2 

1  National University Hospital, Department of Laboratory Medicine, Singapore, Singapore (GRID:grid.412106.0) (ISNI:0000 0004 0621 9599) 
2  Division of Paediatric Endocrinology, Department of Paediatrics, Khoo Teck Puat - National University Children’s Medical Institute, National University Hospital, Singapore, Singapore (GRID:grid.412106.0) (ISNI:0000 0004 0621 9599) 
Publication year
2021
Publication date
2021
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-021-00167-5
ProQuest document ID
2568103190
Copyright
© The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.