A FRMD7 variant in a Japanese family causes congenital nystagmus

Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family...

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Autores principales: Kohmoto, Tomohiro, Okamoto, Nana, Satomura, Shigeko, Naruto, Takuya, Komori, Takahide, Hashimoto, Toshiaki, Imoto, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785577/
https://www.ncbi.nlm.nih.gov/pubmed/27081518
http://dx.doi.org/10.1038/hgv.2015.2
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author Kohmoto, Tomohiro
Okamoto, Nana
Satomura, Shigeko
Naruto, Takuya
Komori, Takahide
Hashimoto, Toshiaki
Imoto, Issei
author_facet Kohmoto, Tomohiro
Okamoto, Nana
Satomura, Shigeko
Naruto, Takuya
Komori, Takahide
Hashimoto, Toshiaki
Imoto, Issei
author_sort Kohmoto, Tomohiro
collection PubMed
description Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked ICN.
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spelling pubmed-47855772016-04-14 A FRMD7 variant in a Japanese family causes congenital nystagmus Kohmoto, Tomohiro Okamoto, Nana Satomura, Shigeko Naruto, Takuya Komori, Takahide Hashimoto, Toshiaki Imoto, Issei Hum Genome Var Data Report Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked ICN. Nature Publishing Group 2015-02-12 /pmc/articles/PMC4785577/ /pubmed/27081518 http://dx.doi.org/10.1038/hgv.2015.2 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported 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/3.0/
spellingShingle Data Report
Kohmoto, Tomohiro
Okamoto, Nana
Satomura, Shigeko
Naruto, Takuya
Komori, Takahide
Hashimoto, Toshiaki
Imoto, Issei
A FRMD7 variant in a Japanese family causes congenital nystagmus
title A FRMD7 variant in a Japanese family causes congenital nystagmus
title_full A FRMD7 variant in a Japanese family causes congenital nystagmus
title_fullStr A FRMD7 variant in a Japanese family causes congenital nystagmus
title_full_unstemmed A FRMD7 variant in a Japanese family causes congenital nystagmus
title_short A FRMD7 variant in a Japanese family causes congenital nystagmus
title_sort frmd7 variant in a japanese family causes congenital nystagmus
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785577/
https://www.ncbi.nlm.nih.gov/pubmed/27081518
http://dx.doi.org/10.1038/hgv.2015.2
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