Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.

doi:10.1038/srep44465

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Article

Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.

Scientific reports - 15 Mar 2017

Jiang Jingjing, Wu Xiaofei, Shen Di, Dong Lijin, Jiao Xiaodong, Hejtmancik J Fielding, Li Ningdong

Abstract excerpt

Mutations in RP2 and RPGR genes are responsible for the X-linked retinitis pigmentosa (XLRP). In this study, we analyzed the RP2 and RPGR gene mutations in five Han Chinese families with XLRP. An approximately 17Kb large deletion including the exon 4 and exon 5 of RP2 gene was found in an XLRP family. In addition, four frameshift mutations including three novel mutations of c.1059 + 1 G > T, c.2002dupC and...

Topics

Adolescent
Adult
Child
Eye Proteins
Female
Frameshift Mutation
GTP-Binding Proteins
Genetic Diseases, X-Linked
Genetic Linkage
Genetic Predisposition to Disease
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Intracellular Signaling Peptides and Proteins

Male

Membrane Proteins

Pedigree

Retinitis Pigmentosa

Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 28294154
DOI: 10.1038/srep44465
PMCID: PMC5353642

Genes

RPGR

Variants

Provenance

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