title: Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked juvenile retinoschisis.
abstract: X-linked juvenile retinoschisis (XLRS) is a major cause of macular degeneration in young men. In this study we analyzed all six exons of the XLRS1 gene in four sporadic XLRS patients and in an affected family in China who were recently diagnosed. We found there are five different mutations with four containing missense point mutations and one having a frame-shift deletion. Among these mutations both c.644A>T and c.520delC are novel and have not been previously reported. Moreover all the second-generation offsprings and most of the third-generation ones in the affected family were found to carry the mutations bearing X chromosome. The discovery of novel mutations in the XLRS1 gene would increase the available information about the spectrum of genetic abnormalities causing XLRS. Although the limited data failed to reveal a correlation between mutations and disease phenotypes our identification of novel mutations in the XLRS1 gene will facilitate early and correct diagnosis and genetic counseling regarding the prognosis of XLRS disease.
authors.affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, China.
authors.forename: Meizhen
authors.initials: M
authors.lastname: Zeng
authors.forename: Changxian
authors.initials: C
authors.lastname: Yi
authors.forename: Xiangming
authors.initials: X
authors.lastname: Guo
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Jia
authors.forename: Yan
authors.initials: Y
authors.lastname: Deng
authors.forename: Juan
authors.initials: J
authors.lastname: Wang
authors.forename: Huangxuan
authors.initials: H
authors.lastname: Shen
mesh_terms: D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D041441:Retinoschisis / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human