Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy

We identified a novel mutation in the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a consanguineous Thai family with gelatinous drop-like corneal dystrophy (GDLD). All affected family members presented with an intense amyloid substance deposited on the cornea, which required surgic...

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Autores principales: Jongkhajornpong, Passara, Lekhanont, Kaevalin, Ueta, Mayumi, Kitazawa, Koji, Kawasaki, Satoshi, Kinoshita, Shigeru
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/PMC4785563/
https://www.ncbi.nlm.nih.gov/pubmed/27081552
http://dx.doi.org/10.1038/hgv.2015.47
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author Jongkhajornpong, Passara
Lekhanont, Kaevalin
Ueta, Mayumi
Kitazawa, Koji
Kawasaki, Satoshi
Kinoshita, Shigeru
author_facet Jongkhajornpong, Passara
Lekhanont, Kaevalin
Ueta, Mayumi
Kitazawa, Koji
Kawasaki, Satoshi
Kinoshita, Shigeru
author_sort Jongkhajornpong, Passara
collection PubMed
description We identified a novel mutation in the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a consanguineous Thai family with gelatinous drop-like corneal dystrophy (GDLD). All affected family members presented with an intense amyloid substance deposited on the cornea, which required surgical management. Genetic analysis of these individuals revealed a homozygous mutation c.79delC, in the TACSTD2 gene. Both parents of these individuals were unaffected and showed heterozygous mutations in the TACSTD2 gene. The mutation produced a truncated protein sequence that might be the cause of GDLD.
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spelling pubmed-47855632016-04-14 Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy Jongkhajornpong, Passara Lekhanont, Kaevalin Ueta, Mayumi Kitazawa, Koji Kawasaki, Satoshi Kinoshita, Shigeru Hum Genome Var Data Report We identified a novel mutation in the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a consanguineous Thai family with gelatinous drop-like corneal dystrophy (GDLD). All affected family members presented with an intense amyloid substance deposited on the cornea, which required surgical management. Genetic analysis of these individuals revealed a homozygous mutation c.79delC, in the TACSTD2 gene. Both parents of these individuals were unaffected and showed heterozygous mutations in the TACSTD2 gene. The mutation produced a truncated protein sequence that might be the cause of GDLD. Nature Publishing Group 2015-11-26 /pmc/articles/PMC4785563/ /pubmed/27081552 http://dx.doi.org/10.1038/hgv.2015.47 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
Jongkhajornpong, Passara
Lekhanont, Kaevalin
Ueta, Mayumi
Kitazawa, Koji
Kawasaki, Satoshi
Kinoshita, Shigeru
Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy
title Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy
title_full Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy
title_fullStr Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy
title_full_unstemmed Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy
title_short Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy
title_sort novel tacstd2 mutation in gelatinous drop-like corneal dystrophy
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785563/
https://www.ncbi.nlm.nih.gov/pubmed/27081552
http://dx.doi.org/10.1038/hgv.2015.47
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