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
_version_ 1783747175713341440
author Poon, Kok-Siong
Tan, Karen Mei-Ling
Loke, Kah Yin
author_facet Poon, Kok-Siong
Tan, Karen Mei-Ling
Loke, Kah Yin
author_sort Poon, Kok-Siong
collection PubMed
description 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).
format Online
Article
Text
id pubmed-8410801
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-84108012021-09-22 A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant Poon, Kok-Siong Tan, Karen Mei-Ling Loke, Kah Yin Hum Genome Var Data Report 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). Nature Publishing Group UK 2021-09-01 /pmc/articles/PMC8410801/ /pubmed/34471093 http://dx.doi.org/10.1038/s41439-021-00167-5 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Poon, Kok-Siong
Tan, Karen Mei-Ling
Loke, Kah Yin
A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant
title A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant
title_full A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant
title_fullStr A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant
title_full_unstemmed A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant
title_short A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant
title_sort novel de novo androgen receptor nonsense mutation in a sex-reversed 46,xy infant
topic Data Report
url 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
work_keys_str_mv AT poonkoksiong anoveldenovoandrogenreceptornonsensemutationinasexreversed46xyinfant
AT tankarenmeiling anoveldenovoandrogenreceptornonsensemutationinasexreversed46xyinfant
AT lokekahyin anoveldenovoandrogenreceptornonsensemutationinasexreversed46xyinfant
AT poonkoksiong noveldenovoandrogenreceptornonsensemutationinasexreversed46xyinfant
AT tankarenmeiling noveldenovoandrogenreceptornonsensemutationinasexreversed46xyinfant
AT lokekahyin noveldenovoandrogenreceptornonsensemutationinasexreversed46xyinfant

Ejemplares similares