title: Novel RS1 mutations associated with X-linked juvenile retinoschisis.
abstract: To identify mutations in the retinoschisin (RS1) gene in families with X-linked             retinoschisis (XLRS). Twenty families with XLRS were enrolled in this study. All             six coding exons and adjacent intronic regions of RS1 were amplified by polymerase             chain reaction (PCR). The nucleotide sequences of the amplicons were determined             by Sanger sequencing. Ten hemizygous mutations in RS1 were detected in patients             from 14 of the 20 families. Four of the ten mutations were novel, including c:176G>A             (p:Cys59Tyr) in exon 3, c:531T>G (p:Tyr177X), c:607C>G (p:Pro203Ala) and             c:668G>A (p:Cys223Tyr) in exon 6. These four novel mutations were not present             in 176 normal individuals. The remaining six were recurrent mutations, including             c:214G>A (p:Glu72Lys), c:304C>T (p:Arg102Trp), c:436G>A (p:Glu146Lys),             c:544C>T (p:Arg182Cys), c:599G>A (p:Arg200His) and c:644A>T (p:Glu215Val).             Our study expanded the mutation spectrum of RS1 and enriches our understanding             of the molecular basis of XLRS.
authors.affiliation: Department of Ophthalmology, The Third Xiangya Hospital, Central-South University, Changsha 410013, PR China.
authors.forename: Junhui
authors.initials: J
authors.lastname: Yi
authors.forename: Shiqiang
authors.initials: S
authors.lastname: Li
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Jia
authors.forename: Xueshan
authors.initials: X
authors.lastname: Xiao
authors.forename: Panfeng
authors.initials: P
authors.lastname: Wang
authors.forename: Xiangming
authors.initials: X
authors.lastname: Guo
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D044466:Asian People; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005091:Exons; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D056426:Genetic Loci; D057898:Hemizygote; D006801:Humans; D020125:Mutation, Missense; D041441:Retinoschisis / Q000453:epidemiology* / Q000235:genetics*; D016415:Sequence Alignment
chemical_list: D017931:DNA Primers; D005136:Eye Proteins; C108726:RS1 protein, human