| Identification of a Novel LCA6 Mutation in an Emirati Family. | |
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MedLine Citation:
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PMID: 23278760 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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ABSTRACT Purpose: To determine the cause of Leber congenital amaurosis (LCA) in a consanguineous Emirati family. Methods: The clinical diagnosis was made on the basis of medical history, ophthalmoscopy and standard ERG. The diagnosis was confirmed by molecular genetic analysis of known LCA genes by Next-Generation Sequencing (NGS). The latter was performed by Bioscientia Institut, Germany (as a clinical service for Latifa Hospital, Dubai). Results: The next generation sequencing of known LCA genes revealed a homozygous 1bp-insertion c.2608_2609insA in exon 16 of the RPGRIP1 gene. This mutation, which was confirmed by conventional Sanger sequencing, leads to a frameshift, resulting in a premature stop codon (p.Leu870TyrfsX7) and subsequently in a degradation of the m-RNA or in a truncation of the RPGRIP1 protein. The segregation analysis of the identified mutation was performed for the parental samples. Both parents carry the frameshift mutation in a heterozygous state. Conclusion: We report a novel RPGRIP1 mutation causing LCA in a consanguineous Emirati family. To the best of our knowledge, this alteration has not been described in the literature so far. |
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Authors:
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Malika Fakhratova |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2013-1-2 |
Journal Detail:
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Title: Ophthalmic genetics Volume: - ISSN: 1744-5094 ISO Abbreviation: Ophthalmic Genet. Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-1-2 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Ophthalmology, Dubai Hospital, Dubai Health Authority , Dubai , United Arab Emirates. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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