A novel missense RP1 mutation in retinitis pigmentosa
نویسندگان
چکیده
منابع مشابه
CLINICAL SCIENCE A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa
Background: Besides the three known genes (RHO, RDS/Peripherin, NRL) involved in autosomal dominant retinitis pigmentosa (adRP), a fourth gene, RP1, has been recently identified. Initial reports suggest that mutations in the RP1 gene are the second most frequent cause of adRP. The clinical findings were described in a family with adRP and a novel mutation in the RP1 gene. Method: Index patients...
متن کاملA novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.
BACKGROUND Besides the three known genes (RHO, RDS/Peripherin, NRL) involved in autosomal dominant retinitis pigmentosa (adRP), a fourth gene, RP1, has been recently identified. Initial reports suggest that mutations in the RP1 gene are the second most frequent cause of adRP. The clinical findings were described in a family with adRP and a novel mutation in the RP1 gene. METHOD Index patients...
متن کاملA Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family
The SNRNP200 gene encodes hBrr2, a helicase essential for pre-mRNA splicing. Six mutations in SNRNP200 have recently been discovered to be associated with autosomal dominant retinitis pigmentosa (adRP). In this work, we analyzed a Chinese family with adRP and identified a novel missense mutation in SNRNP200. To identify the genetic defect in this family, exome of the proband was captured and se...
متن کاملUnilateral retinitis pigmentosa occurring in an individual with a germline mutation in the RP1 gene.
R etinitis pigmentosa (RP) is a heterogeneous group of monogenic retinal disorders characterized by progressive rod and then cone photoreceptor degeneration. Although female carriers of mutations in the X-linked genes RP2 and RP3 show asymmetry, cases due to mutations of autosomal genes show a high degree of symmetry between eyes. Patients with unilateral RP have been described, but none of the...
متن کاملIdentification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
PURPOSE The purpose of this study was to identify the underlying molecular genetic defect in an Indonesian family with three affected individuals who had received a diagnosis of retinitis pigmentosa (RP). METHODS Clinical evaluation of the family members included measuring visual acuity and fundoscopy, and assessing visual field and color vision. Genomic DNA of the three affected individuals ...
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ژورنال
عنوان ژورنال: Eye
سال: 2005
ISSN: 0950-222X,1476-5454
DOI: 10.1038/sj.eye.6701944