Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy

Blue cone monochromacy (BCM) is caused by the lack of expression of the normal proteins encoded by the OPN1LW and OPN1MW genes, resulting in the absence of red and green cone sensitivities. We analyzed two cases of BCM in two different families and identified deletion mutations in the locus control...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Chunxia, Hosono, Katsuhiro, Kachi, Shu, Suto, Kimiko, Nakamura, Makoto, Terasaki, Hiroko, Miyake, Yozo, Hotta, Yoshihiro, Minoshima, Shinsei
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/PMC4880642/
https://www.ncbi.nlm.nih.gov/pubmed/27274860
http://dx.doi.org/10.1038/hgv.2016.11
_version_ 1782433822108811264
author Wang, Chunxia
Hosono, Katsuhiro
Kachi, Shu
Suto, Kimiko
Nakamura, Makoto
Terasaki, Hiroko
Miyake, Yozo
Hotta, Yoshihiro
Minoshima, Shinsei
author_facet Wang, Chunxia
Hosono, Katsuhiro
Kachi, Shu
Suto, Kimiko
Nakamura, Makoto
Terasaki, Hiroko
Miyake, Yozo
Hotta, Yoshihiro
Minoshima, Shinsei
author_sort Wang, Chunxia
collection PubMed
description Blue cone monochromacy (BCM) is caused by the lack of expression of the normal proteins encoded by the OPN1LW and OPN1MW genes, resulting in the absence of red and green cone sensitivities. We analyzed two cases of BCM in two different families and identified deletion mutations in the locus control region upstream of the two genes. Deletion breakpoints were determined to an accuracy of one base for both cases.
format Online
Article
Text
id pubmed-4880642
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher Nature Publishing Group
record_format MEDLINE/PubMed
spelling pubmed-48806422016-06-03 Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy Wang, Chunxia Hosono, Katsuhiro Kachi, Shu Suto, Kimiko Nakamura, Makoto Terasaki, Hiroko Miyake, Yozo Hotta, Yoshihiro Minoshima, Shinsei Hum Genome Var Data Report Blue cone monochromacy (BCM) is caused by the lack of expression of the normal proteins encoded by the OPN1LW and OPN1MW genes, resulting in the absence of red and green cone sensitivities. We analyzed two cases of BCM in two different families and identified deletion mutations in the locus control region upstream of the two genes. Deletion breakpoints were determined to an accuracy of one base for both cases. Nature Publishing Group 2016-05-26 /pmc/articles/PMC4880642/ /pubmed/27274860 http://dx.doi.org/10.1038/hgv.2016.11 Text en Copyright © 2016 Official journal of the Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 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-nd/4.0/
spellingShingle Data Report
Wang, Chunxia
Hosono, Katsuhiro
Kachi, Shu
Suto, Kimiko
Nakamura, Makoto
Terasaki, Hiroko
Miyake, Yozo
Hotta, Yoshihiro
Minoshima, Shinsei
Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy
title Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy
title_full Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy
title_fullStr Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy
title_full_unstemmed Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy
title_short Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy
title_sort novel opn1lw/opn1mw deletion mutations in 2 japanese families with blue cone monochromacy
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880642/
https://www.ncbi.nlm.nih.gov/pubmed/27274860
http://dx.doi.org/10.1038/hgv.2016.11
work_keys_str_mv AT wangchunxia novelopn1lwopn1mwdeletionmutationsin2japanesefamilieswithblueconemonochromacy
AT hosonokatsuhiro novelopn1lwopn1mwdeletionmutationsin2japanesefamilieswithblueconemonochromacy
AT kachishu novelopn1lwopn1mwdeletionmutationsin2japanesefamilieswithblueconemonochromacy
AT sutokimiko novelopn1lwopn1mwdeletionmutationsin2japanesefamilieswithblueconemonochromacy
AT nakamuramakoto novelopn1lwopn1mwdeletionmutationsin2japanesefamilieswithblueconemonochromacy
AT terasakihiroko novelopn1lwopn1mwdeletionmutationsin2japanesefamilieswithblueconemonochromacy
AT miyakeyozo novelopn1lwopn1mwdeletionmutationsin2japanesefamilieswithblueconemonochromacy
AT hottayoshihiro novelopn1lwopn1mwdeletionmutationsin2japanesefamilieswithblueconemonochromacy
AT minoshimashinsei novelopn1lwopn1mwdeletionmutationsin2japanesefamilieswithblueconemonochromacy

Ejemplares similares