PMID- 10391212
OWN - NLM
STAT- MEDLINE
DCOM- 19990719
LR  - 20201209
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 22
IP  - 3
DP  - 1999 Jul
TI  - Mutations in a novel retina-specific gene cause autosomal dominant retinitis
      pigmentosa.
PG  - 255-9
AB  - Inherited retinal diseases are a common cause of visual impairment in children
      and young adults, often resulting in severe loss of vision in later life. The
      most frequent form of inherited retinopathy is retinitis pigmentosa (RP), with an
      approximate incidence of 1 in 3,500 individuals worldwide. RP is characterized by
      night blindness and progressive degeneration of the midperipheral retina,
      accompanied by bone spicule-like pigmentary deposits and a reduced or absent
      electroretinogram (ERG). The disease process culminates in severe reduction of
      visual fields or blindness. RP is genetically heterogeneous, with autosomal
      dominant, autosomal recessive and X-linked forms. Here we have identified two
      mutations in a novel retina-specific gene from chromosome 8q that cause the RP1
      form of autosomal dominant RP in three unrelated families. The protein encoded by
      this gene is 2,156 amino acids and its function is currently unknown, although
      the amino terminus has similarity to that of the doublecortin protein, whose gene
      (DCX) has been implicated in lissencephaly in humans. Two families have a
      nonsense mutation in codon 677 of this gene (Arg677stop), whereas the third
      family has a nonsense mutation in codon 679 (Gln679stop). In one family, two
      individuals homozygous for the mutant gene have more severe retinal disease
      compared with heterozygotes.
FAU - Sullivan, L S
AU  - Sullivan LS
AD  - Human Genetics Center, School of Public Health, and Department of Ophthalmology
      and Visual Science, The University of Texas Health Science Center, Houston 77030,
      USA. gsbs047@utsph.sph.uth.tmc.edu
FAU - Heckenlively, J R
AU  - Heckenlively JR
FAU - Bowne, S J
AU  - Bowne SJ
FAU - Zuo, J
AU  - Zuo J
FAU - Hide, W A
AU  - Hide WA
FAU - Gal, A
AU  - Gal A
FAU - Denton, M
AU  - Denton M
FAU - Inglehearn, C F
AU  - Inglehearn CF
FAU - Blanton, S H
AU  - Blanton SH
FAU - Daiger, S P
AU  - Daiger SP
LA  - eng
SI  - GENBANK/AF143222
SI  - GENBANK/AF143223
SI  - GENBANK/AF143224
SI  - GENBANK/AF143225
SI  - GENBANK/AF143226
SI  - GENBANK/AH007999
GR  - R01 EY007142/EY/NEI NIH HHS/United States
GR  - R01 EY007142-12A2/EY/NEI NIH HHS/United States
GR  - EY07142/EY/NEI NIH HHS/United States
GR  - Wellcome Trust/United Kingdom
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  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Eye Proteins)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (RP1 protein, human)
SB  - IM
MH  - Adult
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Child
MH  - Chromosomes, Human, Pair 8/genetics
MH  - Eye Proteins/genetics
MH  - Female
MH  - Genes, Dominant
MH  - Heterozygote
MH  - Homozygote
MH  - Humans
MH  - Male
MH  - Microtubule-Associated Proteins
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Pedigree
MH  - Polymorphism, Genetic
MH  - Retina/*metabolism
MH  - Retinitis Pigmentosa/*genetics
MH  - Sequence Homology, Amino Acid
PMC - PMC2582380
MID - NIHMS76708
EDAT- 1999/07/03 10:00
MHDA- 2001/03/23 10:01
CRDT- 1999/07/03 10:00
PHST- 1999/07/03 10:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/07/03 10:00 [entrez]
AID - 10.1038/10314 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Jul;22(3):255-9. doi: 10.1038/10314.