PMID- 10220153
OWN - NLM
STAT- MEDLINE
DCOM- 19990610
LR  - 20061115
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 4
DP  - 1999
TI  - Identification of four novel mutations of the XLRS1 gene in Japanese patients
      with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
PG  - 338
AB  - 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.
FAU - Mashima, Y
AU  - Mashima Y
AD  - Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
      mashima@mc.med.keio.ac.jp
FAU - Shinoda, K
AU  - Shinoda K
FAU - Ishida, S
AU  - Ishida S
FAU - Ozawa, Y
AU  - Ozawa Y
FAU - Kudoh, J
AU  - Kudoh J
FAU - Iwata, T
AU  - Iwata T
FAU - Oguchi, Y
AU  - Oguchi Y
FAU - Shimizu, N
AU  - Shimizu N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Eye Proteins)
RN  - 0 (RS1 protein, human)
SB  - IM
MH  - Cell Adhesion/genetics
MH  - Chromosome Deletion
MH  - DNA Mutational Analysis
MH  - Exons
MH  - Eye Diseases, Hereditary/*genetics
MH  - Eye Proteins/*genetics
MH  - Humans
MH  - Japan
MH  - Male
MH  - Mutation
MH  - Mutation, Missense
EDAT- 1999/04/29 02:03
MHDA- 2000/06/22 10:00
CRDT- 1999/04/29 02:03
PHST- 1999/04/29 02:03 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/29 02:03 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU15>3.0.CO;2-3 [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU16>3.0.CO;2-0 [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(4):338. doi:
      10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU16>3.0.CO;2-0.