PMID- 10520237
OWN - NLM
STAT- MEDLINE
DCOM- 19991203
LR  - 20191103
IS  - 1381-6810 (Print)
IS  - 1381-6810 (Linking)
VI  - 20
IP  - 3
DP  - 1999 Sep
TI  - Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2).
PG  - 161-72
AB  - PURPOSE: To identify possible correlations between the putative mutations and the
      clinical characteristics in X-linked retinitis pigmentosa, RP2. DESIGN: A
      retrospective, descriptive clinical study. MATERIAL: The ophthalmological files
      on affected persons from three Danish families with identified pathogenic
      mutations in the RP2 gene. RESULTS: Mutation analysis in 14 Danish families with 
      X-linked retinitis pigmentosa revealed disease-associated sequence alterations in
      eight of them. Five mutations were detected in the RP3 gene (RPGR) and three in
      the RP2 gene. Genotype-phenotype comparison in the three RP2 families revealed
      striking interfamilial phenotypic differences. Severe phenotypes were associated 
      with a null mutation Gln26stop and a missense mutation Arg118His. These families 
      differed mutually with respect to retinal appearance. Affected carriers had a
      delayed onset by three decades. Tapetal reflexes were not observed in the
      carriers. An in-frame deletion DeltaSer6 was associated with a milder phenotype. 
      CONCLUSIONS: Interfamilial differences in RP2 phenotype might be related to the
      type and location of the mutational event. Due to a considerable overlap between 
      RP2 and RP3 phenotypes, the genotype cannot safely be deduced from conventional
      clinical examination methods.
FAU - Rosenberg, T
AU  - Rosenberg T
AD  - National Eye Clinic for the Visually Impaired, Hellerup, Denmark.
      roseeye@visaid.dk
FAU - Schwahn, U
AU  - Schwahn U
FAU - Feil, S
AU  - Feil S
FAU - Berger, W
AU  - Berger W
LA  - eng
SI  - GENBANK/AJ007590
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Ophthalmic Genet
JT  - Ophthalmic genetics
JID - 9436057
RN  - 0 (Eye Proteins)
RN  - 0 (Proteins)
RN  - 0 (RPGR protein, human)
SB  - IM
MH  - Adult
MH  - Aged
MH  - DNA Mutational Analysis
MH  - *Eye Proteins
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Pedigree
MH  - Phenotype
MH  - Proteins/genetics
MH  - Retinitis Pigmentosa/*genetics
MH  - Retrospective Studies
MH  - *X Chromosome
EDAT- 1999/10/16 00:00
MHDA- 1999/10/16 00:01
CRDT- 1999/10/16 00:00
PHST- 1999/10/16 00:00 [pubmed]
PHST- 1999/10/16 00:01 [medline]
PHST- 1999/10/16 00:00 [entrez]
AID - 10.1076/opge.20.3.161.2278 [doi]
PST - ppublish
SO  - Ophthalmic Genet. 1999 Sep;20(3):161-72. doi: 10.1076/opge.20.3.161.2278.