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

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 t...

Descripción completa

Detalles Bibliográficos
Autores principales: Poon, Kok-Siong, Tan, Karen Mei-Ling, Loke, Kah Yin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410801/
https://www.ncbi.nlm.nih.gov/pubmed/34471093
http://dx.doi.org/10.1038/s41439-021-00167-5
Descripción
Sumario: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).

Ejemplares similares