Novel frameshift mutations inCRX associated with Leber congenital amaurosis
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چکیده
منابع مشابه
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis
PURPOSE The gene encoding nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) was recently found to be mutated in a subset of patients with Leber congenital amaurosis (LCA) with macular atrophy. The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and associated phenotypes in different types of inherited retinal dystrophies. METHODS DNA samples of 161 pat...
متن کاملCRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum
Background: Leber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. It has been reported that 9-15% of LCA cases have mutations in CRB1 gene. The complex of CRB1 protein with other associated proteins affects the determination of cell polarity, orientation, and morphogenesis of photoreceptors. Here, we report three novel pathogenic varia...
متن کاملNovel NMNAT1 mutations causing Leber congenital amaurosis identified.
1. Weleber RG, Francis PJ, Trzupek KM. Leber ongenital amaurosis 2004 [Updated 2010]. In: Pagon RA, Bird TD, Dolan CR, et al., eds. GeneReviewsTM [Internet] (WA): University of Washington, 1993, from: http://www.ncbi.nlm.nih.gov/books/NBK1298/ 2. Bainbridge JW, Smith AJ, Barker SS et al. Effect of gene therapy on visual function in Leber’s congenital amaurosis. N Engl J Med 2008: 358 (21): 2231...
متن کاملNovel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients
PURPOSE Retinal pigment epithelium-specific protein 65 kDa (RPE65) plays an essential role in vitamin A metabolism necessary for synthesizing the visual pigment 11-cis-retinal chromophore. Mutations in RPE65 cause the childhood blindness disorder known as Leber congenital amaurosis (LCA), as well as autosomal recessive retinitis pigmentosa (RP). The purpose of this study was to identify RPE65 m...
متن کاملNovel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: Biochemical and clinical evaluations
The purpose of this study was to determine the role of the retinol dehydrogenase 12 (RDH12) gene in patients affected with Leber congenital amaurosis (LCA), autosomal recessive retinitis pigmentosa (arRP) and autosomal dominant/recessive cone-rod dystrophies (CORD). Changes in the promoter region, coding regions and exon/intron junctions of the RDH12 gene were evaluated using direct DNA sequenc...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2001
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.1243