Abstract
Stargardt disease (STGD) and late-onset fundus flavimaculatus (FFM) are autosomal recessive conditions leading to macular degenerations in childhood and adulthood, respectively. Recently, mutations of the photoreceptor cell-specific ATP binding transporter gene (ABCR) have been reported in Stargardt disease. Here, we report on the screening of the whole coding sequence of the ABCR gene in 40 unrelated STGD and 15 FFM families and we show that mutations truncating the ABCR protein consistently led to STGD. Conversely, all mutations identified in FFM were missense mutations affecting uncharged amino acids. These results provide the first genotype-phenotype correlations in ABCR gene mutations.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Rozet, JM., Gerber, S., Souied, E. et al. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet 6, 291–295 (1998). https://doi.org/10.1038/sj.ejhg.5200221
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200221
Keywords
This article is cited by
-
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
Orphanet Journal of Rare Diseases (2015)
-
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
Human Genetics (2014)
-
Stargardt Disease: towards developing a model to predict phenotype
European Journal of Human Genetics (2013)
-
Molecular diagnosis of putative Stargardt disease probands by exome sequencing
BMC Medical Genetics (2012)
-
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
European Journal of Human Genetics (2008)