ArticleThe Journal of molecular diagnostics : JMD2004
Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.
Article in The Journal of molecular diagnostics : JMD, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- A diagnostic confidence scheme for CLN3 disease.Journal of inherited metabolic disease · 2021Observational
- Establishment of a quenching probe method for detection ofOncology letters · 2016Article
- Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis.Developmental medicine and child neurology · 2015Article
- Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).Journal of child neurology · 2013Review
- Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.Contemporary clinical trials · 2013Article
- Females experience a more severe disease course in Batten disease.Journal of inherited metabolic disease · 2012Article
- Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).Neurology · 2011Article
- Quantitative telemedicine ratings in Batten disease: implications for rare disease research.Neurology · 2011Article
- Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data.Journal of inherited metabolic disease · 2011Article
- [Genetics of neuronal ceroidlipofuscinoses. Aspects of genetic counseling].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2010Review
- Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).Developmental medicine and child neurology · 2010Article
- Rapid method for detection of mutations in the nucleophosmin gene in acute myeloid leukemia.The Journal of molecular diagnostics : JMD · 2008Article
- Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies.Journal of child neurology · 2007Article
- Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.Survey of ophthalmologyReview
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Batten disease is an autosomal recessive disorder also known as juvenile neuronal ceroid lipofuscinosis. The most common mutation for this disease is an approximately 1-kbp deletion in the CLN3 gene, which accounts for about 80 to 85% of the mutation load. We developed a rapid assay for this mutation using the PCR to produce amplicons that are detected by nucleobase quenching of the fluorescent signal from a probe labeled with a fluorescent dye. The probe overlaps the deletion breakpoint and is completely base paired to the mutant amplicon. However, three bases at the 5' end of the probe do not base pair with the wild-type amplicon. The alleles are distinguished by the different melting temperatures of the probe amplicon hybrids. Comparison of this new method with an allele-specific PCR and gel electrophoresis-based method showed 100% concordance in determination of the genotype for 30 specimens (11 homozygous mutant, 8 heterozygotes, and 11 homozygous normal). PCR followed by allele-specific melting curve analysis using nucleobase quenching has utility as a rapid method for detection of the most common mutation that causes Batten disease.
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Registered trials
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