Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs*63) mutations in the ALMS1 gene. Although ALMS1...

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Autores principales: Srikrupa, Natarajan N., Sripriya, Sarangapani, Pavithra, Suriyanarayanan, Sen, Parveen, Gupta, Ravi, Mathavan, Sinnakaruppan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8007799/
https://www.ncbi.nlm.nih.gov/pubmed/33782391
http://dx.doi.org/10.1038/s41439-021-00143-z
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author Srikrupa, Natarajan N.
Sripriya, Sarangapani
Pavithra, Suriyanarayanan
Sen, Parveen
Gupta, Ravi
Mathavan, Sinnakaruppan
author_facet Srikrupa, Natarajan N.
Sripriya, Sarangapani
Pavithra, Suriyanarayanan
Sen, Parveen
Gupta, Ravi
Mathavan, Sinnakaruppan
author_sort Srikrupa, Natarajan N.
collection PubMed
description Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs*63) mutations in the ALMS1 gene. Although ALMS1 gene mutations are associated with Alstrom syndrome (AS), the current patients did not exhibit typical syndromic features of AS. These data suggest that ALMS1 should be included in the candidate gene panel for LCA to improve diagnostic efficiency.
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spelling pubmed-80077992021-04-16 Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis Srikrupa, Natarajan N. Sripriya, Sarangapani Pavithra, Suriyanarayanan Sen, Parveen Gupta, Ravi Mathavan, Sinnakaruppan Hum Genome Var Data Report Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs*63) mutations in the ALMS1 gene. Although ALMS1 gene mutations are associated with Alstrom syndrome (AS), the current patients did not exhibit typical syndromic features of AS. These data suggest that ALMS1 should be included in the candidate gene panel for LCA to improve diagnostic efficiency. Nature Publishing Group UK 2021-03-29 /pmc/articles/PMC8007799/ /pubmed/33782391 http://dx.doi.org/10.1038/s41439-021-00143-z Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Srikrupa, Natarajan N.
Sripriya, Sarangapani
Pavithra, Suriyanarayanan
Sen, Parveen
Gupta, Ravi
Mathavan, Sinnakaruppan
Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
title Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
title_full Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
title_fullStr Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
title_full_unstemmed Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
title_short Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
title_sort whole-exome sequencing identifies two novel alms1 mutations in indian patients with leber congenital amaurosis
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8007799/
https://www.ncbi.nlm.nih.gov/pubmed/33782391
http://dx.doi.org/10.1038/s41439-021-00143-z
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