PMID- 10102298
OWN - NLM
STAT- MEDLINE
DCOM- 19990402
LR  - 20131121
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 40
IP  - 5
DP  - 1999 Apr
TI  - Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding
      protein gene (RLBP1) on chromosome 15q26.
PG  - 995-1000
AB  - PURPOSE: To determine the chromosomal location and to identify the gene causing a
      type of retinitis punctata albescens, called Bothnia dystrophy, found in a
      restricted geographic area in northern Sweden. METHODS: Twenty patients from
      seven families originating from a restricted geographic area in northern Sweden
      were clinically examined. Microsatellite markers were analyzed in all affected
      and unaffected family members. Direct genomic sequencing of the gene encoding
      cellular retinaldehyde-binding protein was performed after the linkage analysis
      had been completed. RESULTS: Affected individuals showed night blindness from
      early childhood with features consistent with retinitis punctata albescens and
      macular degeneration. The responsible gene was mapped to 15q26, the same region
      to which the cellular retinaldehyde-binding protein gene has been assigned.
      Subsequent analysis showed all affected patients were homozygous for a C to T
      substitution in exon 7 of the same gene, leading to the missense mutation
      Arg234Trp. Analysis of marker haplotypes suggested that all cases had a common
      ancestor who carried the mutation. CONCLUSIONS: A missense mutation in the
      cellular retinaldehyde-binding protein gene is the cause of Bothnia dystrophy.
      The disease is a local variant of retinitis punctata albescens that is common in 
      northern Sweden due to a founder mutation.
FAU - Burstedt, M S
AU  - Burstedt MS
AD  - Department of Ophthalmology, University of Umea, Sweden.
FAU - Sandgren, O
AU  - Sandgren O
FAU - Holmgren, G
AU  - Holmgren G
FAU - Forsman-Semb, K
AU  - Forsman-Semb K
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (11-cis-retinal-binding protein)
RN  - 0 (Carrier Proteins)
RN  - 9007-49-2 (DNA)
RN  - RR725D715M (Retinaldehyde)
SB  - IM
MH  - Adult
MH  - Carrier Proteins/*genetics
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - DNA/analysis
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genetic Linkage
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Middle Aged
MH  - *Mutation, Missense
MH  - Night Blindness/genetics
MH  - Pedigree
MH  - Retinaldehyde/*genetics
MH  - Retinitis Pigmentosa/epidemiology/*genetics/pathology
MH  - Sweden/epidemiology
EDAT- 1999/04/02 00:00
MHDA- 1999/04/02 00:01
CRDT- 1999/04/02 00:00
PHST- 1999/04/02 00:00 [pubmed]
PHST- 1999/04/02 00:01 [medline]
PHST- 1999/04/02 00:00 [entrez]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 1999 Apr;40(5):995-1000.