title: Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.
abstract: 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 c.2236_2237del CT, as well as a previously reported mutation of c.2899delG were detected in the RPGR gene in the other four families. Our study further expands the mutation spectrum of RP2 and RPGR, and will be helpful for further study molecular pathogenesis of XLRP.
authors.affiliation: MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, The Capital University of Medical Science, Beijing, China.
authors.forename: Jingjing
authors.initials: J
authors.lastname: Jiang
authors.affiliation: Tianjin Medical University, Tianjin, China.
authors.forename: Xiaofei
authors.initials: X
authors.lastname: Wu
authors.affiliation: Xi'An Ophthalmological Hospital, Xi'An No 1 Hospital, Xi'An, 710002 Shanxi Province, China.
authors.forename: Di
authors.initials: D
authors.lastname: Shen
authors.affiliation: Genetic Engineering Core, NEI, NIH, Bethesda, MD, USA.
authors.forename: Lijin
authors.initials: L
authors.lastname: Dong
authors.affiliation: OGVFB, NEI, NIH, Bethesda, MD, USA.
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Jiao
authors.affiliation: OGVFB, NEI, NIH, Bethesda, MD, USA.
authors.forename: J Fielding
authors.initials: JF
authors.lastname: Hejtmancik
authors.affiliation: MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, The Capital University of Medical Science, Beijing, China.|Tianjin Medical University, Tianjin, China.|OGVFB, NEI, NIH, Bethesda, MD, USA.
authors.forename: Ningdong
authors.initials: N
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D019204:GTP-Binding Proteins; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000473:pathology; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
chemical_list: D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C072178:RP2 protein, human; C099929:RPGR protein, human; D019204:GTP-Binding Proteins