PMID- 10615133
OWN - NLM
STAT- MEDLINE
DCOM- 20000210
LR  - 20220311
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 24
IP  - 1
DP  - 2000 Jan
TI  - Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital
      amaurosis.
PG  - 79-83
AB  - Leber congenital amaurosis (LCA, MIM 204000) accounts for at least 5% of all
      inherited retinal disease and is the most severe inherited retinopathy with the
      earliest age of onset. Individuals affected with LCA are diagnosed at birth or in
      the first few months of life with severely impaired vision or blindness,
      nystagmus and an abnormal or flat electroretinogram (ERG). Mutations in GUCY2D
      (ref. 3), RPE65 (ref. 4) and CRX (ref. 5) are known to cause LCA, but one study
      identified disease-causing GUCY2D mutations in only 8 of 15 families whose LCA
      locus maps to 17p13.1 (ref. 3), suggesting another LCA locus might be located on 
      17p13.1. Confirming this prediction, the LCA in one Pakistani family mapped to
      17p13.1, between D17S849 and D17S960-a region that excludes GUCY2D. The LCA in
      this family has been designated LCA4 (ref. 6). We describe here a new
      photoreceptor/pineal-expressed gene, AIPL1 (encoding aryl-hydrocarbon interacting
      protein-like 1), that maps within the LCA4 candidate region and whose protein
      contains three tetratricopeptide (TPR) motifs, consistent with nuclear transport 
      or chaperone activity. A homozygous nonsense mutation at codon 278 is present in 
      all affected members of the original LCA4 family. AIPL1 mutations may cause
      approximately 20% of recessive LCA, as disease-causing mutations were identified 
      in 3 of 14 LCA families not tested previously for linkage.
FAU - Sohocki, M M
AU  - Sohocki MM
AD  - Human Genetics Center, School of Public Health, The University of Texas-Houston
      Health Science Center, Houston, Texas, USA.
FAU - Bowne, S J
AU  - Bowne SJ
FAU - Sullivan, L S
AU  - Sullivan LS
FAU - Blackshaw, S
AU  - Blackshaw S
FAU - Cepko, C L
AU  - Cepko CL
FAU - Payne, A M
AU  - Payne AM
FAU - Bhattacharya, S S
AU  - Bhattacharya SS
FAU - Khaliq, S
AU  - Khaliq S
FAU - Qasim Mehdi, S
AU  - Qasim Mehdi S
FAU - Birch, D G
AU  - Birch DG
FAU - Harrison, W R
AU  - Harrison WR
FAU - Elder, F F
AU  - Elder FF
FAU - Heckenlively, J R
AU  - Heckenlively JR
FAU - Daiger, S P
AU  - Daiger SP
LA  - eng
SI  - GENBANK/AF148864
SI  - GENBANK/AF151392
SI  - GENBANK/AF180340
SI  - GENBANK/AF180341
SI  - GENBANK/AF180472
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
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 (AIPL1 protein, human)
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (Carrier Proteins)
RN  - 0 (DNA, Complementary)
RN  - 0 (Eye Proteins)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Carrier Proteins/chemistry/*genetics
MH  - *Chromosomes, Human, Pair 17
MH  - DNA, Complementary
MH  - Eye Proteins
MH  - Female
MH  - Genetic Linkage
MH  - Homozygote
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Optic Atrophies, Hereditary/*genetics
MH  - Pedigree
MH  - Photoreceptor Cells, Vertebrate/metabolism
MH  - Pineal Gland/metabolism
MH  - Sequence Homology, Amino Acid
PMC - PMC2581448
MID - NIHMS76712
EDAT- 1999/12/30 09:00
MHDA- 2001/03/23 10:01
CRDT- 1999/12/30 09:00
PHST- 1999/12/30 09:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/12/30 09:00 [entrez]
AID - 10.1038/71732 [doi]
PST - ppublish
SO  - Nat Genet. 2000 Jan;24(1):79-83. doi: 10.1038/71732.