PMID- 10079181
OWN - NLM
STAT- MEDLINE
DCOM- 19990413
LR  - 20131121
IS  - 0006-291X (Print)
IS  - 0006-291X (Linking)
VI  - 256
IP  - 2
DP  - 1999 Mar 16
TI  - Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in
      families with X-linked retinoschisis.
PG  - 317-9
AB  - Congenital retinoschisis (RS) is a hereditary eye disorder characterized by
      intraretinal schisis and central and peripheral retinal lesion. The gene
      responsible for the X-linked retinoschisis (XLRS1) has recently been isolated and
      found to contain mutations in affected members of several families. In this
      communication, two families with X-linked RS were analyzed for possible
      disease-causing mutations by polymerase chain reaction amplification of exons
      followed by DNA sequencing. Our analyses reveal a missense mutation at codon 197 
      in exon 6 and a nonsense mutation in exon-4 of XLRS1 gene. These changes resulted
      in the replacement of a highly conserved arginine by a cysteine residue and
      introduced a premature termination signal at codon 89, respectively. These
      mutations, which are transmitted through three generations, cosegregated with the
      disease, and are not found in the unaffected family members and 150 normal
      X-chromosomes, are likely to be pathogenic in these families.
CI  - Copyright 1999 Academic Press.
FAU - Shastry, B S
AU  - Shastry BS
AD  - Eye Research Institute, Oakland University, Rochester, Michigan 48309-4410, USA.
FAU - Hejtmancik, F J
AU  - Hejtmancik FJ
FAU - Trese, M T
AU  - Trese MT
LA  - eng
GR  - EY05230/EY/NEI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Biochem Biophys Res Commun
JT  - Biochemical and biophysical research communications
JID - 0372516
RN  - 0 (Codon, Terminator)
RN  - 0 (Eye Proteins)
RN  - 0 (Peptide Fragments)
RN  - 0 (RS1 protein, human)
RN  - 94ZLA3W45F (Arginine)
SB  - IM
MH  - Amino Acid Substitution/genetics
MH  - Arginine/genetics
MH  - Base Sequence
MH  - Codon, Terminator/genetics
MH  - Conserved Sequence/genetics
MH  - DNA Mutational Analysis
MH  - Exons/genetics
MH  - Eye Diseases, Hereditary/*genetics
MH  - Eye Proteins/chemistry/*genetics
MH  - Female
MH  - Genes, Recessive/genetics
MH  - Genetic Linkage
MH  - Humans
MH  - Male
MH  - Mutation, Missense/*genetics
MH  - Pedigree
MH  - Peptide Fragments/genetics
MH  - Point Mutation/*genetics
MH  - Retinal Degeneration/*genetics
MH  - X Chromosome/genetics
EDAT- 1999/03/18 00:00
MHDA- 1999/03/18 00:01
CRDT- 1999/03/18 00:00
PHST- 1999/03/18 00:00 [pubmed]
PHST- 1999/03/18 00:01 [medline]
PHST- 1999/03/18 00:00 [entrez]
AID - S0006-291X(99)90323-6 [pii]
AID - 10.1006/bbrc.1999.0323 [doi]
PST - ppublish
SO  - Biochem Biophys Res Commun. 1999 Mar 16;256(2):317-9. doi:
      10.1006/bbrc.1999.0323.