A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.

Details

Serval ID
serval:BIB_21057
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
Journal
American journal of human genetics
Author(s)
Héon E., Paterson A.D., Fraser M., Billingsley G., Priston M., Balmer A., Schorderet D.F., Verner A., Hudson T.J., Munier F.L.
ISSN
0002-9297
Publication state
Published
Issued date
2001
Peer-reviewed
Oui
Volume
68
Number
3
Pages
772-7
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't - Publication Status: ppublish
Abstract
Cataracts are the leading cause of blindness in most countries. Although most hereditary cases appear to follow an autosomal dominant pattern of inheritance, autosomal recessive inheritance has been clearly documented and is probably underrecognized. We studied a large family-from a relatively isolated geographic region-whose members were affected by autosomal recessive adult-onset pulverulent cataracts. We mapped the disease locus to a 14-cM interval at a novel disease locus, 9q13-q22 (between markers D9S1123 and D9S257), with a LOD score of 4.7. The study of this progressive and age-related cataract phenotype may provide insight into the cause of the more common sporadic form of age-related cataracts.
Keywords
Adult, Age Factors, Cataract, Chromosome Mapping, Chromosomes, Human, Pair 9, Female, Genes, Recessive, Genetic Markers, Heterozygote Detection, Humans, Lod Score, Male, Middle Aged, Pedigree, Phenotype
Pubmed
Web of science
Open Access
Yes
Create date
19/11/2007 12:16
Last modification date
20/08/2019 12:57
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