PMID- 10482958
OWN - NLM
STAT- MEDLINE
DCOM- 19991101
LR  - 20220129
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 6
DP  - 1999 Sep
TI  - Mutation analysis of the RPGR gene reveals novel mutations in south European
      patients with X-linked retinitis pigmentosa.
PG  - 687-94
AB  - The RPGR (retinitis pigmentosa GTPase regulator) gene has been shown to be
      mutated in 10-20% of patients with X-linked retinitis pigmentosa (XLRP), a severe
      form of inherited progressive retinal degeneration. A total of 29 different RPGR 
      mutations have been identified in northern European and United States patients.
      We have performed mutation analysis of the RPGR gene in a cohort of 49 southern
      European males affected with XLRP. By multiplex SSCA and automatic direct
      sequencing of all 19 RPGR exons, seven different and novel mutations were
      identified in eight of the 49 families; these include three splice site
      mutations, two microdeletions, and two missense mutations. RNA analysis showed
      that the three splice site defects resulted in the generation of aberrant RPGR
      transcripts. Six of these mutations were detected in the conserved amino-terminal
      region of RPGR protein, containing tandem repeats homologous to the RCC1 protein,
      a guanine nucleotide-exchange factor for Ran-GTPase. Several exonic and intronic 
      sequence variations were also detected. None of the RPGR mutations reported in
      other populations were identified in our series. Our results are consistent with 
      the notions of heterogeneity and minority causation of XLRP by mutations in RPGR 
      in Caucasian populations.
FAU - Miano, M G
AU  - Miano MG
AD  - International Institute of Genetics and Biophysics, CNR, Naples, Italy.
FAU - Testa, F
AU  - Testa F
FAU - Strazzullo, M
AU  - Strazzullo M
FAU - Trujillo, M
AU  - Trujillo M
FAU - De Bernardo, C
AU  - De Bernardo C
FAU - Grammatico, B
AU  - Grammatico B
FAU - Simonelli, F
AU  - Simonelli F
FAU - Mangino, M
AU  - Mangino M
FAU - Torrente, I
AU  - Torrente I
FAU - Ruberto, G
AU  - Ruberto G
FAU - Beneyto, M
AU  - Beneyto M
FAU - Antinolo, G
AU  - Antinolo G
FAU - Rinaldi, E
AU  - Rinaldi E
FAU - Danesino, C
AU  - Danesino C
FAU - Ventruto, V
AU  - Ventruto V
FAU - D'Urso, M
AU  - D'Urso M
FAU - Ayuso, C
AU  - Ayuso C
FAU - Baiget, M
AU  - Baiget M
FAU - Ciccodicola, A
AU  - Ciccodicola A
LA  - eng
GR  - E.0546/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Carrier Proteins)
RN  - 0 (Eye Proteins)
RN  - 0 (RPGR protein, human)
SB  - IM
MH  - Base Sequence
MH  - Carrier Proteins/*genetics
MH  - DNA Mutational Analysis
MH  - Europe/epidemiology
MH  - Exons
MH  - *Eye Proteins
MH  - Female
MH  - Gene Deletion
MH  - *Genetic Linkage
MH  - Genetic Variation
MH  - Humans
MH  - Introns
MH  - Male
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Mutation, Missense
MH  - Pedigree
MH  - Polymorphism, Genetic
MH  - RNA Splicing
MH  - Retinitis Pigmentosa/diagnosis/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - United States/epidemiology
MH  - *X Chromosome
EDAT- 1999/09/14 00:00
MHDA- 1999/09/14 00:01
CRDT- 1999/09/14 00:00
PHST- 1999/09/14 00:00 [pubmed]
PHST- 1999/09/14 00:01 [medline]
PHST- 1999/09/14 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200352 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Sep;7(6):687-94. doi: 10.1038/sj.ejhg.5200352.