Document Detail

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.
MedLine Citation:
PMID:  12442277     Owner:  NLM     Status:  MEDLINE    
Genotype-phenotype correlations highlighted the function of ABCA4 in retinitis pigmentosa (RP),cone-rod dystrophy (CRD) and Stargardt/Fundus Flavimaculatus disease (STGD/FFM). Initial screening of ABCA4 variants showed a correlation between the type of mutation and the severity of the disease. In the present study we have undertaken mutational and haplotype analysis of ABCA4 in three mixed pedigrees segregating different retinal dystrophies. In family I, we have shown cosegregation of different ABCA4 alleles with CRD (homozygosity for L1940P) and three subtypes of STGD/FFM. The first, a mild form, consisting on fundus flavimaculatus-like distribution of flecks, but good visual acuity and absence of dark choroid, was found to cosegregate with alleles R1097C and F553L; the second, a conventional Stargardt phenotype was associated to alleles L1940P/R1097C and the third, displaying severely reduced visual acuity and dark choroid (named FFM), was associated to L1940P/F553L. In family II, segregating STGD and RP phenotypes, while the involvement of ABCA4 in STGD seems clear this is not the case for RP. Finally, in family III, also segregating STGD and RP, ABCA4 fails to explain either phenotype. Our data highlight the wide allelic heterogeneity involving this gene and support the genetic variability (beyond ABCA4) of mixed STGD/RP pedigrees.
Eva Paloma; Rosa Coco; Amalia Martínez-Mir; Lluïsa Vilageliu; Susana Balcells; Roser Gonzàlez-Duarte
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human mutation     Volume:  20     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2002 Dec 
Date Detail:
Created Date:  2002-11-20     Completed Date:  2002-12-23     Revised Date:  2009-11-03    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  United States    
Other Details:
Languages:  eng     Pagination:  476     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Departament de Genètica, Universitat de Barcelona, Barcelona, Spain.
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MeSH Terms
ATP-Binding Cassette Transporters / genetics*
DNA / chemistry,  genetics
DNA Mutational Analysis
Family Health
Macular Degeneration / genetics,  pathology
Mutation, Missense
Retinal Degeneration / genetics,  pathology
Retinal Diseases / genetics*,  pathology
Retinitis Pigmentosa / genetics,  pathology
Reg. No./Substance:
0/ABCA4 protein, human; 0/ATP-Binding Cassette Transporters; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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