Literature DB >> 8275096

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.

J Kaplan1, S Gerber, D Larget-Piet, J M Rozet, H Dollfus, J L Dufier, S Odent, A Postel-Vinay, N Janin, M L Briard.   

Abstract

Stargardt's disease (fundus flavimaculatus) is one of the most frequent causes of macular degeneration in childhood and accounts for 7% of all retinal dystrophies. It is an autosomal recessive condition characterized by a bilateral loss of central vision occurring at age 7-12 years. Genetic linkage analysis of eight families has assigned the disease locus to chromosome 1p21-p13. Multipoint linkage analysis and haplotype analysis has allowed us to establish the best estimate for location of the gene over the locus D1S435 (maximum lod score of 12.66). Our results are consistent with the genetic homogeneity of this condition.

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Year:  1993        PMID： 8275096     DOI： 10.1038/ng1193-308

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  36 in total

Review 1.  Simple and complex ABCR: genetic predisposition to retinal disease.

Authors:  R Allikmets
Journal:  Am J Hum Genet       Date:  2000-09-01       Impact factor: 11.025

Review 2.  Genetic factors of age-related macular degeneration.

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Journal:  Prog Retin Eye Res       Date:  2004-03       Impact factor: 21.198

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Authors:  B W Jones; M Kondo; H Terasaki; Y Lin; M McCall; R E Marc
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4.  A novel locus for Leber congenital amaurosis maps to chromosome 6q.

Authors:  S Dharmaraj; Y Li; J M Robitaille; E Silva; D Zhu; T N Mitchell; L P Maltby; A B Baffoe-Bonnie; I H Maumenee
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

Review 5.  Molecular genetics of macular dystrophies.

Authors:  K Zhang; H Yeon; M Han; L A Donoso
Journal:  Br J Ophthalmol       Date:  1996-11       Impact factor: 4.638

6.  Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.

Authors:  J M Rozet; S Gerber; I Ghazi; I Perrault; D Ducroq; E Souied; A Cabot; J L Dufier; A Munnich; J Kaplan
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

Review 7.  Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Authors:  Frans P M Cremers; Winston Lee; Rob W J Collin; Rando Allikmets
Journal:  Prog Retin Eye Res       Date:  2020-04-09       Impact factor: 21.198

8.  A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.

Authors:  M Kniazeva; M F Chiang; B Morgan; A L Anduze; D J Zack; M Han; K Zhang
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

9.  Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease.

Authors:  S Gerber; J M Rozet; D Bonneau; E Souied; J Weissenbach; J Frezal; A Munnich; J Kaplan
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

10.  Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

Authors:  R A Lewis; N F Shroyer; N Singh; R Allikmets; A Hutchinson; Y Li; J R Lupski; M Leppert; M Dean
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025
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