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Article

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).

American journal of human genetics - 1 Mar 1995

Taschner P E, de Vos N, Thompson A D, Callen D F, Doggett N, Mole S E, Dooley T P, Barth P G, Breuning M H

Abstract excerpt

The gene that is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease--CLN3--has been localized to 16p12, and the mutation shows a strong association with alleles of microsatellite markers D16S298, D16S299, and D16S288. Recently, haplotype analysis of a Batten patient from a consanguineous relationship indicated homozygosity for a D16S298 null allele. PCR analysis with different primers...

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Identifiers

PMID: 7887420
PMCID: PMC1801154

Genes

CLN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 11 closest

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).PMID 7887420Read ↗

Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association.Semantic proximity Read ↗

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.Semantic proximity Read ↗

Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.Semantic proximity Read ↗

Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits.Semantic proximity Read ↗

Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).Semantic proximity Read ↗

Spectrum of mutations in the Batten disease gene, CLN3.Semantic proximity Read ↗

Physical map of the region containing the gene for Batten disease (CLN3).Semantic proximity Read ↗

Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.Semantic proximity Read ↗

Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.Semantic proximity Read ↗

Coding sequence and exon/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English setter dogs.Semantic proximity Read ↗

Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).Semantic proximity Read ↗

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