A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome

Stickler syndrome is a clinically and genetically heterogeneous collagenopathy characterized by ocular, auditory, skeletal and orofacial abnormalities, commonly occurring as an autosomal dominant trait. We conducted target resequencing to analyze candidate genes associated with known clinical phenot...

Descripción completa

Detalles Bibliográficos
Autores principales: Kohmoto, Tomohiro, Naruto, Takuya, Kobayashi, Haruka, Watanabe, Miki, Okamoto, Nana, Masuda, Kiyoshi, Imoto, Issei, Okamoto, Nobuhiko
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/PMC4785552/
https://www.ncbi.nlm.nih.gov/pubmed/27081549
http://dx.doi.org/10.1038/hgv.2015.43
_version_ 1782420420584013824
author Kohmoto, Tomohiro
Naruto, Takuya
Kobayashi, Haruka
Watanabe, Miki
Okamoto, Nana
Masuda, Kiyoshi
Imoto, Issei
Okamoto, Nobuhiko
author_facet Kohmoto, Tomohiro
Naruto, Takuya
Kobayashi, Haruka
Watanabe, Miki
Okamoto, Nana
Masuda, Kiyoshi
Imoto, Issei
Okamoto, Nobuhiko
author_sort Kohmoto, Tomohiro
collection PubMed
description Stickler syndrome is a clinically and genetically heterogeneous collagenopathy characterized by ocular, auditory, skeletal and orofacial abnormalities, commonly occurring as an autosomal dominant trait. We conducted target resequencing to analyze candidate genes associated with known clinical phenotypes from a 4-year-old girl with Stickler syndrome. We detected a novel heterozygous intronic mutation (NM_001854.3:c.3168+5G>A) in COL11A1 that may impair splicing, which was suggested by in silico prediction and a minigene assay.
format Online
Article
Text
id pubmed-4785552
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher Nature Publishing Group
record_format MEDLINE/PubMed
spelling pubmed-47855522016-04-14 A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome Kohmoto, Tomohiro Naruto, Takuya Kobayashi, Haruka Watanabe, Miki Okamoto, Nana Masuda, Kiyoshi Imoto, Issei Okamoto, Nobuhiko Hum Genome Var Data Report Stickler syndrome is a clinically and genetically heterogeneous collagenopathy characterized by ocular, auditory, skeletal and orofacial abnormalities, commonly occurring as an autosomal dominant trait. We conducted target resequencing to analyze candidate genes associated with known clinical phenotypes from a 4-year-old girl with Stickler syndrome. We detected a novel heterozygous intronic mutation (NM_001854.3:c.3168+5G>A) in COL11A1 that may impair splicing, which was suggested by in silico prediction and a minigene assay. Nature Publishing Group 2015-11-12 /pmc/articles/PMC4785552/ /pubmed/27081549 http://dx.doi.org/10.1038/hgv.2015.43 Text en Copyright © 2015 Official journal of the Japan Society of Human Genetics 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
Kohmoto, Tomohiro
Naruto, Takuya
Kobayashi, Haruka
Watanabe, Miki
Okamoto, Nana
Masuda, Kiyoshi
Imoto, Issei
Okamoto, Nobuhiko
A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome
title A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome
title_full A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome
title_fullStr A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome
title_full_unstemmed A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome
title_short A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome
title_sort novel col11a1 mutation affecting splicing in a patient with stickler syndrome
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785552/
https://www.ncbi.nlm.nih.gov/pubmed/27081549
http://dx.doi.org/10.1038/hgv.2015.43
work_keys_str_mv AT kohmototomohiro anovelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT narutotakuya anovelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT kobayashiharuka anovelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT watanabemiki anovelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT okamotonana anovelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT masudakiyoshi anovelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT imotoissei anovelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT okamotonobuhiko anovelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT kohmototomohiro novelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT narutotakuya novelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT kobayashiharuka novelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT watanabemiki novelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT okamotonana novelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT masudakiyoshi novelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT imotoissei novelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome
AT okamotonobuhiko novelcol11a1mutationaffectingsplicinginapatientwithsticklersyndrome

Ejemplares similares