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Identified in three compound heterozygote cases of Stargardt Disease.
Disease causing gene.
See Allikmets R et al. 1997 (9054934).
See unpublished research (below).
enrichment not significant (p = 0.11)
Segregated in three families, but no LOD score information available.
Severe (but not total) vision loss
Uncurable, but symptoms are alleviated by sunglasses and magnifiers.
Stargardt disease is generally 100% penetrant (mendelian disease)
High clinical importance, Uncertain pathogenic
(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard
B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL,
Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. A photoreceptor cell-specific
ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular
dystrophy. Nat Genet. 1997 Mar;15(3):236-46. Erratum in: Nat Genet. 1997
Sep;17(1):122. PubMed PMID: 9054934.
This variant was identified in three out of 48 families with Stargardt macular dystrophy (one is reported as compound heterozygous, it is unclear what the zygosity is in the other two families). It was not see in 50 control individuals (100 control chromosomes). p = 0.113. Pedigrees are not provided for the reported families and so it is unclear what the LOD score would be.
Added in this revision:
Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R,
Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu
A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzàlez-Duarte R, Kaplan
J, te Meerman GJ, Santos R, Schwartz M, Van Camp G, Wadelius C, Weber BH, Cremers
FP. The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency
from South-West to North-East Europe. Eur J Hum Genet. 2002 Mar;10(3):197-203.
PubMed PMID: 11973624.
hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr1:94517254
huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr1:94517254