Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene
نویسندگان
چکیده
منابع مشابه
Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.
OBJECTIVE To investigate the phenotypic and genotypic characteristics of a novel mutation associated with X-linked retinitis pigmentosa (XLRP). METHODS Six individuals in a family with XLRP were recruited, and clinical examinations were performed. All of the members were genotyped with microsatellite markers at loci that were considered to be associated with XLRP. The retinitis pigmentosa GTP...
متن کاملA retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3).
The X-linked RP3 locus codes for retinitis pigmentosa GTPase regulator (RPGR), a protein of unknown function with sequence homology to the guanine nucleotide exchange factor for Ran GTPase. We created an RPGR-deficient murine model by gene knockout. In the mutant mice, cone photoreceptors exhibit ectopic localization of cone opsins in the cell body and synapses and rod photoreceptors have a red...
متن کاملA novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family.
PURPOSE To identify the genetic basis of disease in a Chinese family with retinitis pigmentosa (RP). METHODS Linkage analysis was performed for 15 family members in the RP family using microsatellite markers flanking candidate genetic loci for known autosomal dominant RP (adRP) and markers covering the entire X chromosome by every 10 cM. To screen for a mutation causing RP, PCR and DNA sequen...
متن کاملDisease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
PURPOSE To measure the rates of visual acuity, visual field, and ERG loss in patients with X-linked retinitis pigmentosa due to RPGR mutations and to determine whether these rates differ from those of patients with dominant retinitis pigmentosa due to RHO mutations. METHODS Snellen visual acuities, Goldmann visual field areas (V4e white test light), and 30 Hz (cone) full-field ERG amplitudes ...
متن کاملNovel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.
PURPOSE To describe a macrodeletion spanning entire RCC1-like doman in the RPGR gene in one Japanese family with X-linked retinitis pigmentosa (XLRP). METHODS Clinical ophthalmologic examinations were performed and genomic DNA was extracted from blood samples. Genomic DNA was analyzed by Southern blot and PCR amplification with specific primers. RESULTS Patients had severe symptoms with ear...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Eye
سال: 2009
ISSN: 0950-222X,1476-5454
DOI: 10.1038/eye.2008.427