A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation

scientific article published on 24 August 2020

A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation is …
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scholarly articleQ13442814

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P356DOI10.1038/S41433-020-01150-0
P698PubMed publication ID32839555

P50authorJames HejtmancikQ87240905
Xuyang LiuQ98665175
P2093author name stringYun Wang
Ming Yang
Xiaodong Jiao
Daren Zhang
Yueqiu Tan
Fen He
Lan Lu
Danli Li
P2860cites workExome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosaQ21090932
Retinitis pigmentosaQ21203028
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosaQ24532214
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaQ24612935
Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Q28114957
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptorsQ28144488
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15Q28186363
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)Q28282762
X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60Q28291575
5meCpG epigenetic marks neighboring a primate-conserved core promoter short tandem repeat indicate X-chromosome inactivationQ28541438
Retinitis pigmentosaQ29616538
On the heredity of retinitis pigmentosaQ33641994
X-linked retinitis pigmentosaQ33649367
Severe manifestations in carrier females in X linked retinitis pigmentosaQ33679522
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutationsQ33999124
Clinical and genetic characterization of manifesting carriers of DMD mutationsQ34151973
X chromosome-inactivation patterns of 1,005 phenotypically unaffected femalesQ35015824
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandQ35141770
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.Q36462441
The Role of X-Chromosome Inactivation in Retinal Development and DiseaseQ37016159
The RCC1 superfamily: from genes, to function, to disease.Q37149520
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15Q37216323
Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopiaQ37519162
RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options.Q38722345
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosaQ42631280
Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.Q43074848
Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1.Q43168499
RPGR mutations might cause reduced orientation of respiratory ciliaQ44640058
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) familiesQ46508303
A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa.Q50513927
Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.Q52594137
Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.Q54449556
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counselingQ56241301
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR GeneQ57172471
Retinitis pigmentosa. Genetic percentagesQ67338483
X-linked recessive retinitis pigmentosa. Clinical characteristics of carriersQ69608946
Prevalence of retinitis pigmentosa in MaineQ71287186
X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation?Q72567848
P921main subjectretinitis pigmentosaQ847057
P577publication date2020-08-24
P1433published inEyeQ10278937
P1476titleA novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation

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