Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
Abstract 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. Altho...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2021-03-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-021-00143-z |
| _version_ | 1818945565827792896 |
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| author | Natarajan N. Srikrupa Sarangapani Sripriya Suriyanarayanan Pavithra Parveen Sen Ravi Gupta Sinnakaruppan Mathavan |
| author_facet | Natarajan N. Srikrupa Sarangapani Sripriya Suriyanarayanan Pavithra Parveen Sen Ravi Gupta Sinnakaruppan Mathavan |
| author_sort | Natarajan N. Srikrupa |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-20T08:01:09Z |
| format | Article |
| id | doaj.art-481907d2716a46e7893b0105f6676696 |
| institution | Directory Open Access Journal |
| issn | 2054-345X |
| language | English |
| last_indexed | 2024-12-20T08:01:09Z |
| publishDate | 2021-03-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj.art-481907d2716a46e7893b0105f66766962022-12-21T19:47:31ZengNature Publishing GroupHuman Genome Variation2054-345X2021-03-01811510.1038/s41439-021-00143-zWhole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosisNatarajan N. Srikrupa0Sarangapani Sripriya1Suriyanarayanan Pavithra2Parveen Sen3Ravi Gupta4Sinnakaruppan Mathavan5SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara NethralayaSNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara NethralayaSchool of Chemical and Biotechnology, SASTRA deemed to-be UniversityShri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Sankara NethralayaMedGenome Labs Pvt. Ltd.SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara NethralayaAbstract 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.https://doi.org/10.1038/s41439-021-00143-z |
| spellingShingle | Natarajan N. Srikrupa Sarangapani Sripriya Suriyanarayanan Pavithra Parveen Sen Ravi Gupta Sinnakaruppan Mathavan Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis Human Genome Variation |
| 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 |
| url | https://doi.org/10.1038/s41439-021-00143-z |
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