Document Detail

Identification of a Novel LCA6 Mutation in an Emirati Family.
MedLine Citation:
PMID:  23278760     Owner:  NLM     Status:  Publisher    
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.
Malika Fakhratova
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-2
Journal Detail:
Title:  Ophthalmic genetics     Volume:  -     ISSN:  1744-5094     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Ophthalmology, Dubai Hospital, Dubai Health Authority , Dubai , United Arab Emirates.
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