A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis

We identified a novel mutation of the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a Japanese patient with gelatinous drop-like corneal dystrophy (GDLD). Genetic analysis revealed a novel homozygous mutation (c.798delG, which may result in frameshift mutation p.Lys267SerfsTer4) in...

Descripción completa

Detalles Bibliográficos
Autores principales: Nagahara, Yukiko, Tsujikawa, Motokazu, Takigawa, Toru, Xu, Peng, Kai, Chifune, Kawasaki, Satoshi, Nakatsukasa, Mina, Inatomi, Tsutomu, Kinoshita, Shigeru, Nishida, Kohji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804947/
https://www.ncbi.nlm.nih.gov/pubmed/31666974
http://dx.doi.org/10.1038/s41439-019-0060-z
_version_ 1783461291798560768
author Nagahara, Yukiko
Tsujikawa, Motokazu
Takigawa, Toru
Xu, Peng
Kai, Chifune
Kawasaki, Satoshi
Nakatsukasa, Mina
Inatomi, Tsutomu
Kinoshita, Shigeru
Nishida, Kohji
author_facet Nagahara, Yukiko
Tsujikawa, Motokazu
Takigawa, Toru
Xu, Peng
Kai, Chifune
Kawasaki, Satoshi
Nakatsukasa, Mina
Inatomi, Tsutomu
Kinoshita, Shigeru
Nishida, Kohji
author_sort Nagahara, Yukiko
collection PubMed
description We identified a novel mutation of the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a Japanese patient with gelatinous drop-like corneal dystrophy (GDLD). Genetic analysis revealed a novel homozygous mutation (c.798delG, which may result in frameshift mutation p.Lys267SerfsTer4) in the TACSTD2 gene. This mutated gene was devoid of its original function in helping the claudin (CLDN) 1 and 7 proteins transfer from the cytoplasm to the plasma membrane.
format Online
Article
Text
id pubmed-6804947
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-68049472019-10-30 A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis Nagahara, Yukiko Tsujikawa, Motokazu Takigawa, Toru Xu, Peng Kai, Chifune Kawasaki, Satoshi Nakatsukasa, Mina Inatomi, Tsutomu Kinoshita, Shigeru Nishida, Kohji Hum Genome Var Article We identified a novel mutation of the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a Japanese patient with gelatinous drop-like corneal dystrophy (GDLD). Genetic analysis revealed a novel homozygous mutation (c.798delG, which may result in frameshift mutation p.Lys267SerfsTer4) in the TACSTD2 gene. This mutated gene was devoid of its original function in helping the claudin (CLDN) 1 and 7 proteins transfer from the cytoplasm to the plasma membrane. Nature Publishing Group UK 2019-07-11 /pmc/articles/PMC6804947/ /pubmed/31666974 http://dx.doi.org/10.1038/s41439-019-0060-z 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 Article
Nagahara, Yukiko
Tsujikawa, Motokazu
Takigawa, Toru
Xu, Peng
Kai, Chifune
Kawasaki, Satoshi
Nakatsukasa, Mina
Inatomi, Tsutomu
Kinoshita, Shigeru
Nishida, Kohji
A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis
title A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis
title_full A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis
title_fullStr A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis
title_full_unstemmed A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis
title_short A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis
title_sort novel mutation in gelatinous drop-like corneal dystrophy and functional analysis
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804947/
https://www.ncbi.nlm.nih.gov/pubmed/31666974
http://dx.doi.org/10.1038/s41439-019-0060-z
work_keys_str_mv AT nagaharayukiko anovelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT tsujikawamotokazu anovelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT takigawatoru anovelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT xupeng anovelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT kaichifune anovelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT kawasakisatoshi anovelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT nakatsukasamina anovelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT inatomitsutomu anovelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT kinoshitashigeru anovelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT nishidakohji anovelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT nagaharayukiko novelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT tsujikawamotokazu novelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT takigawatoru novelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT xupeng novelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT kaichifune novelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT kawasakisatoshi novelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT nakatsukasamina novelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT inatomitsutomu novelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT kinoshitashigeru novelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis
AT nishidakohji novelmutationingelatinousdroplikecornealdystrophyandfunctionalanalysis

Ejemplares similares