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- Title
A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.
- Authors
Poon, Kok-Siong; Tan, Karen Mei-Ling; Loke, Kah Yin
- 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).
- Subjects
ANDROGEN receptors; NONSENSE mutation; INFANTS; KARYOTYPES; PHENOTYPES
- Publication
Human Genome Variation, 2021, Vol 8, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-021-00167-5