SCAPER ‐associated nonsyndromic autosomal recessive retinitis pigmentosa
نویسندگان
چکیده
منابع مشابه
SLC7A14 linked to autosomal recessive retinitis pigmentosa
Retinitis pigmentosa (RP) is characterized by degeneration of the retinal photoreceptors and is the leading cause of inherited blindness worldwide. Although few genes are known to cause autosomal recessive RP (arRP), a large proportion of disease-causing genes remain to be revealed. Here we report the identification of SLC7A14, a potential cationic transporter, as a novel gene linked to arRP. U...
متن کاملMulticenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa.
Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with autosomal recessive (AR), autosomal dominant, and X-linked modes of inheritance. Autosomal recessive retinitis pigmentosa (ARRP) is the most common form in Japan. A genetic analysis was done to determine the prevalence of ARRP indirectly, to provide an estimation of changing trends in the overall prevalence of RP. D...
متن کاملArrestin gene mutations in autosomal recessive retinitis pigmentosa.
OBJECTIVE To assess the clinical and molecular genetic studies of patients with autosomal recessive retinitis pigmentosa associated with a mutation in the arrestin gene. DESIGN Results of molecular genetic screening and case reports with DNA analysis and clinical features. SETTING University medical center. PATIENTS One hundred twenty anamnestically unrelated patients with autosomal reces...
متن کاملA Large Animal Model for CNGB1 Autosomal Recessive Retinitis Pigmentosa
Retinal dystrophies in dogs are invaluable models of human disease. Progressive retinal atrophy (PRA) is the canine equivalent of retinitis pigmentosa (RP). Similar to RP, PRA is a genetically heterogenous condition. We investigated PRA in the Papillon breed of dog using homozygosity mapping and haplotype construction of single nucleotide polymorphisms within a small family group to identify po...
متن کاملAutosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization.
The pathophysiology of the E150K mutation in the rod opsin gene associated with autosomal recessive retinitis pigmentosa (arRP) has yet to be determined. We generated knock-in mice carrying a single nucleotide change in exon 2 of the rod opsin gene resulting in the E150K mutation. This novel mouse model displayed severe retinal degeneration affecting rhodopsin's stabilization of rod outer segme...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2018
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.61001