ArticleAmerican journal of human genetics2001
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 52 citations in OpenAlex.
- Inherited cataracts: Genetic mechanisms and pathways new and old.Experimental eye research · 2021Review
- Effects of chromosome 9 inversion on IVF/ICSI: A 7-year retrospective cohort study.Molecular genetics & genomic medicine · 2019Article
- Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.PloS one · 2019Article
- Fine mapping of chromosome 9 locus associated with congenital cataract.International ophthalmology · 2018Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Article
- A NovelJournal of ophthalmology · 2016Article
- Article
- A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.PloS one · 2016Article
- Article
- Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.PloS one · 2014Article
- Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.Investigative ophthalmology & visual science · 2011Article
- Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.Molecular vision · 2010Article
- Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q.Molecular vision · 2010Article
- Molecular genetic analysis of autosomal dominant late-onset cataract in a Chinese Family.Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban · 2010Article
- Cat-Map: putting cataract on the map.Molecular vision · 2010Review
- Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.Journal of medical case reports · 2010Article
- Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.Molecular vision · 2010Article
- Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.Molecular vision · 2010Article
- A new locus for autosomal recessive congenital cataract identified in a Pakistani family.Molecular vision · 2010Article
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.