PMID- 10102299
OWN - NLM
STAT- MEDLINE
DCOM- 19990402
LR  - 20131121
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 40
IP  - 5
DP  - 1999 Apr
TI  - Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding
      protein in a form of retinitis punctata albescens.
PG  - 1000-4
AB  - PURPOSE: To determine the frequency and spectrum of mutations in the RLBP1 gene
      encoding cellular retinaldehyde-binding protein (CRALBP) in patients with
      hereditary retinal degeneration. METHODS: The single-strand conformation
      polymorphism (SSCP) technique and a direct genomic sequencing technique were used
      to screen the coding exons of this gene (exons 2-8) for mutations in 324
      unrelated patients with recessive or isolate retinitis pigmentosa, retinitis
      punctata albescens, Leber congenital amaurosis, or a related disease. Variant DNA
      fragments revealed by SSCP analysis were subsequently sequenced. Selected alleles
      that altered the coding region or intron splice sites were evaluated further
      through segregation analysis in the families of the index cases. RESULTS: Four
      novel mutations were identified in this gene among three unrelated patients with 
      recessively inherited retinitis punctata albescens. Two of the mutations were
      missense: one was a frameshift, and one affected a canonical splice donor site.
      CONCLUSIONS: Recessive mutations in the RLBP1 gene are an uncommon cause of
      retinal degeneration in humans. The phenotype produced by RLBP1 mutations seems
      to be a form of retinitis punctata albescens.
FAU - Morimura, H
AU  - Morimura H
AD  - Ocular Molecular Genetics Institute, Harvard Medical School and the Massachusetts
      Eye and Ear Infirmary, Boston 02114, USA.
FAU - Berson, E L
AU  - Berson EL
FAU - Dryja, T P
AU  - Dryja TP
LA  - eng
GR  - EY00169/EY/NEI NIH HHS/United States
GR  - EY08683/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  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (11-cis-retinal-binding protein)
RN  - 0 (Carrier Proteins)
RN  - 0 (DNA Primers)
RN  - 9007-49-2 (DNA)
RN  - RR725D715M (Retinaldehyde)
SB  - IM
MH  - Adult
MH  - Carrier Proteins/*genetics
MH  - DNA/analysis
MH  - DNA Primers/chemistry
MH  - Female
MH  - *Frameshift Mutation
MH  - Fundus Oculi
MH  - *Genes, Recessive
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Mutation, Missense
MH  - Night Blindness/genetics/pathology
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Retinaldehyde/*genetics
MH  - Retinitis Pigmentosa/*genetics/pathology
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):1000-4.