A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

We analyzed two siblings in a Japanese family with delayed onset cone-rod dystrophy (CRD) using whole-exome sequencing. A novel frameshift c.1106dup (p.H370Afs*17) variant and a known missense c.2027 T > A (p.I676N) variant in CDHR1 were identified. Both patients shared the same variants, althoug...

Descripción completa

Detalles Bibliográficos
Autores principales: Haque, Muhammad Nazmul, Kurata, Kentaro, Hosono, Katsuhiro, Ohtsubo, Masafumi, Ohishi, Kentaro, Sato, Miho, Minoshima, Shinsei, Hotta, Yoshihiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459921/
https://www.ncbi.nlm.nih.gov/pubmed/30992995
http://dx.doi.org/10.1038/s41439-019-0048-8
_version_ 1783410253205864448
author Haque, Muhammad Nazmul
Kurata, Kentaro
Hosono, Katsuhiro
Ohtsubo, Masafumi
Ohishi, Kentaro
Sato, Miho
Minoshima, Shinsei
Hotta, Yoshihiro
author_facet Haque, Muhammad Nazmul
Kurata, Kentaro
Hosono, Katsuhiro
Ohtsubo, Masafumi
Ohishi, Kentaro
Sato, Miho
Minoshima, Shinsei
Hotta, Yoshihiro
author_sort Haque, Muhammad Nazmul
collection PubMed
description We analyzed two siblings in a Japanese family with delayed onset cone-rod dystrophy (CRD) using whole-exome sequencing. A novel frameshift c.1106dup (p.H370Afs*17) variant and a known missense c.2027 T > A (p.I676N) variant in CDHR1 were identified. Both patients shared the same variants, although they displayed a significant difference in disease severity. A meta-analysis of the relationship between the severity and the variant type was performed using the reported cases in the literature and did not reveal a definitive correlation.
format Online
Article
Text
id pubmed-6459921
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-64599212019-04-16 A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants Haque, Muhammad Nazmul Kurata, Kentaro Hosono, Katsuhiro Ohtsubo, Masafumi Ohishi, Kentaro Sato, Miho Minoshima, Shinsei Hotta, Yoshihiro Hum Genome Var Data Report We analyzed two siblings in a Japanese family with delayed onset cone-rod dystrophy (CRD) using whole-exome sequencing. A novel frameshift c.1106dup (p.H370Afs*17) variant and a known missense c.2027 T > A (p.I676N) variant in CDHR1 were identified. Both patients shared the same variants, although they displayed a significant difference in disease severity. A meta-analysis of the relationship between the severity and the variant type was performed using the reported cases in the literature and did not reveal a definitive correlation. Nature Publishing Group UK 2019-04-12 /pmc/articles/PMC6459921/ /pubmed/30992995 http://dx.doi.org/10.1038/s41439-019-0048-8 Text en © The Author(s) 2019 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/.
spellingShingle Data Report
Haque, Muhammad Nazmul
Kurata, Kentaro
Hosono, Katsuhiro
Ohtsubo, Masafumi
Ohishi, Kentaro
Sato, Miho
Minoshima, Shinsei
Hotta, Yoshihiro
A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants
title A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants
title_full A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants
title_fullStr A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants
title_full_unstemmed A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants
title_short A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants
title_sort japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel cdhr1 frameshift and known missense variants
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459921/
https://www.ncbi.nlm.nih.gov/pubmed/30992995
http://dx.doi.org/10.1038/s41439-019-0048-8
work_keys_str_mv AT haquemuhammadnazmul ajapanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT kuratakentaro ajapanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT hosonokatsuhiro ajapanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT ohtsubomasafumi ajapanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT ohishikentaro ajapanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT satomiho ajapanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT minoshimashinsei ajapanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT hottayoshihiro ajapanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT haquemuhammadnazmul japanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT kuratakentaro japanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT hosonokatsuhiro japanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT ohtsubomasafumi japanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT ohishikentaro japanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT satomiho japanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT minoshimashinsei japanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants
AT hottayoshihiro japanesefamilywithconeroddystrophyofdelayedonsetcausedbyacompoundheterozygouscombinationofnovelcdhr1frameshiftandknownmissensevariants

Ejemplares similares