A novel C-terminal truncating NR5A1 mutation in dizygotic twins

Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating NR5A1 mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development. Our results highlight the functional i...

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Autores principales: Hattori, Atsushi, Zukeran, Hiroaki, Igarashi, Maki, Toguchi, Suzuka, Toubaru, Yuji, Inoue, Takanobu, Katoh-Fukui, Yuko, Fukami, Maki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352671/
https://www.ncbi.nlm.nih.gov/pubmed/28326187
http://dx.doi.org/10.1038/hgv.2017.8
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author Hattori, Atsushi
Zukeran, Hiroaki
Igarashi, Maki
Toguchi, Suzuka
Toubaru, Yuji
Inoue, Takanobu
Katoh-Fukui, Yuko
Fukami, Maki
author_facet Hattori, Atsushi
Zukeran, Hiroaki
Igarashi, Maki
Toguchi, Suzuka
Toubaru, Yuji
Inoue, Takanobu
Katoh-Fukui, Yuko
Fukami, Maki
author_sort Hattori, Atsushi
collection PubMed
description Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating NR5A1 mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development. Our results highlight the functional importance of C-terminal region of NR5A1 and indicate that NR5A1 mutations can be associated with intrafamilial phenotypic variations, progressive testicular dysfunction, hypogonadotropic hypogonadism, and borderline adrenal dysfunction.
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spelling pubmed-53526712017-03-21 A novel C-terminal truncating NR5A1 mutation in dizygotic twins Hattori, Atsushi Zukeran, Hiroaki Igarashi, Maki Toguchi, Suzuka Toubaru, Yuji Inoue, Takanobu Katoh-Fukui, Yuko Fukami, Maki Hum Genome Var Data Report Nuclear receptor subfamily 5, group A, member 1 (NR5A1) is a nuclear receptor involved in gonadal and adrenal development. We identified a novel C-terminally truncating NR5A1 mutation, p.Leu423Trpfs*7, in dizygotic twins with 46,XY disorders of sex development. Our results highlight the functional importance of C-terminal region of NR5A1 and indicate that NR5A1 mutations can be associated with intrafamilial phenotypic variations, progressive testicular dysfunction, hypogonadotropic hypogonadism, and borderline adrenal dysfunction. Nature Publishing Group 2017-03-16 /pmc/articles/PMC5352671/ /pubmed/28326187 http://dx.doi.org/10.1038/hgv.2017.8 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
Hattori, Atsushi
Zukeran, Hiroaki
Igarashi, Maki
Toguchi, Suzuka
Toubaru, Yuji
Inoue, Takanobu
Katoh-Fukui, Yuko
Fukami, Maki
A novel C-terminal truncating NR5A1 mutation in dizygotic twins
title A novel C-terminal truncating NR5A1 mutation in dizygotic twins
title_full A novel C-terminal truncating NR5A1 mutation in dizygotic twins
title_fullStr A novel C-terminal truncating NR5A1 mutation in dizygotic twins
title_full_unstemmed A novel C-terminal truncating NR5A1 mutation in dizygotic twins
title_short A novel C-terminal truncating NR5A1 mutation in dizygotic twins
title_sort novel c-terminal truncating nr5a1 mutation in dizygotic twins
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352671/
https://www.ncbi.nlm.nih.gov/pubmed/28326187
http://dx.doi.org/10.1038/hgv.2017.8
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