ArticleAmerican journal of human genetics1995
Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 63 citations in OpenAlex.
- Visual Recovery and Neurological Stabilization Following Miglustat Treatment in Pediatric CLN3 Disease.Journal of child neurology · 2026Article
- CLN3 transcript complexity revealed by long-read RNA sequencing analysis.BMC medical genomics · 2024Article
- Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions.Psychiatry research · 2024Review
- The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.Frontiers in neurology · 2021Review
- Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.International journal of molecular sciences · 2020Review
- Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.Molecular genetics & genomic medicine · 2020Article
- The CLN3 gene and protein: What we know.Molecular genetics & genomic medicine · 2019Review
- Article
- Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.Neurogenetics · 2005Review
- The genetic spectrum of human neuronal ceroid-lipofuscinoses.Brain pathology (Zurich, Switzerland) · 2004Review
- Genetics of inherited human epilepsies.Dialogues in clinical neuroscience · 2001Article
- Juvenile neuronal ceroid lipofuscinosis.Indian journal of pediatrics · 2000Article
- Spectrum of mutations in the Batten disease gene, CLN3.American journal of human genetics · 1997Article
- Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.American journal of human genetics · 1997Article
- Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb.American journal of human genetics · 1996Article
- Rapid diagnostic test for the major mutation underlying Batten disease.Journal of medical genetics · 1996Article
- Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians.American journal of human genetics · 1996Article
- Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.American journal of human genetics · 1996Article
- The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.American journal of human genetics · 1996Article
- Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.Journal of inherited metabolic disease · 1996Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
The gene for Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, or Spielmeyer-Sjögren disease), CLN3, maps to 16p11.2-12.1. Four microsatellite markers--D16S288, D16S299, D16S298, and SPN--are in strong linkage disequilibrium with CLN3 in 142 families from 16 different countries. These markers span a candidate region of approximately 2.1 cM. CLN3 is most prevalent in northern European populations and is especially enriched in the isolated Finnish population, with an incidence of 1:21,000. Linkage disequilibrium mapping was applied to further refine the localization of CLN3 in 27 Finnish families by using linkage disequilibrium data and information about the population history of Finland to estimate the distance of the closest markers from CLN3. CLN3 is predicted to lie 8.8 kb (range 6.3-13.8 kb) from D16S298 and 165.4 kb (132.4-218.1 kb) from D16S299. Enrichment of allele "6" at D16S298 (on 96% of Finnish and 92% of European CLN3 chromosomes) provides strong evidence that the same major mutation is responsible for Batten disease in Finland as in most other European countries and that it is therefore not a Finnish mutation. Genealogical studies show that Batten disease is widespread throughout the densely populated regions of Finland. The ancestors of two Finnish patients carrying rare alleles "3" and "5" at D16S298 in heterozygous form originate from the southwestern coast of Finland, and these probably represent other foreign mutations. Analysis of the number and distribution of CLN3 haplotypes from 12 European countries provides evidence that more than one mutation has arisen in Europe.
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7887419PMC1801171W158894911What OpenQuestion holds
Registered trials
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.