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Identification of four novel mutations of the XLRS1 gene in Japanese patients with X‐linked juvenile retinoschisis
Author(s) -
Mashima Yukihiko,
Shinoda Kei,
Ishida Susumu,
Ozawa Yoko,
Kudoh Jun,
Iwata Takeshi,
Oguchi Yoshihisa,
Shimizu Nobuyoshi
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:4<338::aid-humu16>3.0.co;2-0
Subject(s) - biology , missense mutation , genetics , exon , nonsense mutation , mutation , gene , retinoschisis , microbiology and biotechnology , gene mutation , retinal detachment , retinal , biochemistry
The XLRS1 gene (HUGO‐approved symbol, RS1 ) has been found to cause X‐linked recessive retinoschisis (RS) which is characterized by splitting of the superficial layer of the retina. Recent mutation analysis of this gene revealed 82 different mutations in 214 patients with RS. We have now identified 10 mutations of the XLRS1 gene in 11 unrelated Japanese males with RS. Mutations found in these patients were; 1) a 20‐kb deletion in exon 1 region; 2) mutations in the initiation sequence (M1V); 3) mutations in the splice donor site (IVS1+1 g→a); 4) two nonsense mutations (Q88X, W163X); and 5) five missense mutations (E72K, Y89C, R182C, G109E, P203L). Four (M1V, Q88X, G109E, and W163X) of the 10 mutations were novel. The R182C mutation was identified in 2 unrelated patients. The 3 mutations found between exons 1 and 3 cause premature translation termination in the XLRS1 protein. The rest of the 7 mutations were clustered between exons 4 and 6. This region of the protein is homologous to the proteins implicated in cell‐cell adhesion. © 1999 Wiley‐Liss, Inc.