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Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy


Weigell-Weber, Maike; Sarra, Gian-Marco; Kotzot, Dieter; Sandkuijl, Lodewijk; Messmer, Elmar; Hergersberg, Martin (2003). Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. Archives of Ophthalmology, 121(8):1184-8.

Abstract

OBJECTIVES

To localize the gene that causes an autosomal recessively inherited vitreoretinal dystrophy that has not been described, to our knowledge, and to analyze a candidate gene mapped to 22q13 (fibulin-1 [FBLN1]).

METHODS

Homozygosity mapping with 500 microsatellite markers spread over the whole genome (mean distance, 7.2 centimorgans [cM]) and mutation analysis of the complete coding region of FBLN1.

RESULTS

Homozygosity for all analyzed markers was found in the 4 affected siblings in a region on chromosome 22 encompassing 12 cM from D22S444 (centromeric) to D22S1170 (telomeric). Lod scores were between 0.017 and 2.36 (theta = 0). A mutation analysis of the complete coding region of FBLN1, which encodes interacting extracellular matrix proteins, revealed 4 previously undescribed single nucleotide polymorphisms.

CONCLUSIONS

A genomewide homozygosity mapping analysis supported the hypothesis that the gene responsible for a unique vitreoretinal dystrophy is located on chromosome 22q13. No obviously pathogenic mutation was found in the candidate gene, FBLN1.

Abstract

OBJECTIVES

To localize the gene that causes an autosomal recessively inherited vitreoretinal dystrophy that has not been described, to our knowledge, and to analyze a candidate gene mapped to 22q13 (fibulin-1 [FBLN1]).

METHODS

Homozygosity mapping with 500 microsatellite markers spread over the whole genome (mean distance, 7.2 centimorgans [cM]) and mutation analysis of the complete coding region of FBLN1.

RESULTS

Homozygosity for all analyzed markers was found in the 4 affected siblings in a region on chromosome 22 encompassing 12 cM from D22S444 (centromeric) to D22S1170 (telomeric). Lod scores were between 0.017 and 2.36 (theta = 0). A mutation analysis of the complete coding region of FBLN1, which encodes interacting extracellular matrix proteins, revealed 4 previously undescribed single nucleotide polymorphisms.

CONCLUSIONS

A genomewide homozygosity mapping analysis supported the hypothesis that the gene responsible for a unique vitreoretinal dystrophy is located on chromosome 22q13. No obviously pathogenic mutation was found in the candidate gene, FBLN1.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Ophthalmology
Uncontrolled Keywords:22q13, FBLN1
Language:English
Date:August 2003
Deposited On:17 Jan 2023 12:56
Last Modified:28 Apr 2024 01:44
Publisher:American Medical Association (AMA)
ISSN:0003-9950
OA Status:Hybrid
Publisher DOI:https://doi.org/10.1001/archopht.121.8.1184
PubMed ID:12912698
Project Information:
  • : FunderHartmann-Müller-Stiftung
  • : Grant ID737/1998
  • : Project Title
  • : FunderSchweizerischen Nationalfonds
  • : Grant ID31-59267.99
  • : Project Title
  • Content: Published Version
  • Language: English