A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1

Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box gene 3 (PAX3). We identified a novel PAX3 mutation (c.1107 C>G, p.Ser369Arg) in a Japan...

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Autores principales: Yoshida, Yu, Doi, Rieko, Adachi, Kaori, Nanba, Eiji, Kodani, Isamu, Ryoke, Kazuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775770/
https://www.ncbi.nlm.nih.gov/pubmed/27081571
http://dx.doi.org/10.1038/hgv.2016.5
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author Yoshida, Yu
Doi, Rieko
Adachi, Kaori
Nanba, Eiji
Kodani, Isamu
Ryoke, Kazuo
author_facet Yoshida, Yu
Doi, Rieko
Adachi, Kaori
Nanba, Eiji
Kodani, Isamu
Ryoke, Kazuo
author_sort Yoshida, Yu
collection PubMed
description Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box gene 3 (PAX3). We identified a novel PAX3 mutation (c.1107 C>G, p.Ser369Arg) in a Japanese WS1 patient showing abnormal right iris pigmentation, right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism.
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spelling pubmed-47757702016-04-14 A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1 Yoshida, Yu Doi, Rieko Adachi, Kaori Nanba, Eiji Kodani, Isamu Ryoke, Kazuo Hum Genome Var Data Report Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box gene 3 (PAX3). We identified a novel PAX3 mutation (c.1107 C>G, p.Ser369Arg) in a Japanese WS1 patient showing abnormal right iris pigmentation, right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism. Nature Publishing Group 2016-03-03 /pmc/articles/PMC4775770/ /pubmed/27081571 http://dx.doi.org/10.1038/hgv.2016.5 Text en Copyright © 2016 Official journal of the Japan Society of Human Genetics http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 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/4.0/
spellingShingle Data Report
Yoshida, Yu
Doi, Rieko
Adachi, Kaori
Nanba, Eiji
Kodani, Isamu
Ryoke, Kazuo
A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1
title A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1
title_full A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1
title_fullStr A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1
title_full_unstemmed A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1
title_short A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1
title_sort novel pax3 mutation in a japanese boy with waardenburg syndrome type 1
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775770/
https://www.ncbi.nlm.nih.gov/pubmed/27081571
http://dx.doi.org/10.1038/hgv.2016.5
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