PMID- 10533068
OWN - NLM
STAT- MEDLINE
DCOM- 20000106
LR  - 20101118
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 5
DP  - 1999
TI  - Novel mutations in XLRS1 causing retinoschisis, including first evidence of
      putative leader sequence change.
PG  - 423-7
AB  - Juvenile retinoschisis is an X-linked recessive disease caused by mutations in
      the XLRS1 gene. We screened 31 new unrelated patients and families for XLRS1
      mutations in addition to previously reported mutations for 60 of our families
      (Retinoschisis Consortium, Hum Mol Genet 1998;7:1185-1192). Twenty-three
      different mutations including 12 novel ones were identified in 28 patients.
      Mutations identified in this study include 19 missense mutations, two nonsense
      mutations, one intragenic deletion, four microdeletions, one insertion, and one
      intronic sequence substitution that is likely to result in a splice site defect. 
      Two novel mutations, c.38T-->C (L13P) and c.667T-->C (C223R), respectively,
      present the first genetic evidence for the functional significance of the
      putative leader peptide sequence and for the functional significance at the
      carboxyl terminal of the XLRS1 protein beyond the discoidin domain. Mutations in 
      25 of the families were localized to exons 4-6, emphasizing the critical
      functional significance of the discoidin domain of the XLRS1 protein.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Hiriyanna, K T
AU  - Hiriyanna KT
AD  - Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University
      of Michigan, Ann Arbor 48105, USA. khiri@umich.edu
FAU - Bingham, E L
AU  - Bingham EL
FAU - Yashar, B M
AU  - Yashar BM
FAU - Ayyagari, R
AU  - Ayyagari R
FAU - Fishman, G
AU  - Fishman G
FAU - Small, K W
AU  - Small KW
FAU - Weinberg, D V
AU  - Weinberg DV
FAU - Weleber, R G
AU  - Weleber RG
FAU - Lewis, R A
AU  - Lewis RA
FAU - Andreasson, S
AU  - Andreasson S
FAU - Richards, J E
AU  - Richards JE
FAU - Sieving, P A
AU  - Sieving PA
LA  - eng
GR  - P30 EY007003/EY/NEI NIH HHS/United States
GR  - R01EY 10259/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  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Codon, Nonsense)
RN  - 0 (Eye Proteins)
RN  - 0 (Protein Sorting Signals)
RN  - 0 (RS1 protein, human)
SB  - IM
MH  - Child
MH  - Codon, Nonsense
MH  - DNA Mutational Analysis
MH  - Exons/genetics
MH  - Eye Proteins/chemistry/*genetics
MH  - Female
MH  - Genes, Recessive
MH  - *Genetic Linkage
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Mutation, Missense
MH  - Point Mutation
MH  - Protein Sorting Signals/genetics
MH  - Retinal Degeneration/*genetics
MH  - Sequence Deletion
MH  - X Chromosome/*genetics
EDAT- 1999/10/26 00:00
MHDA- 1999/10/26 00:01
CRDT- 1999/10/26 00:00
PHST- 1999/10/26 00:00 [pubmed]
PHST- 1999/10/26 00:01 [medline]
PHST- 1999/10/26 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D [pii]
AID - 10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(5):423-7. doi:
      10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D.