ArticleAmerican journal of human genetics1995
Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).
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 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 19 citations in OpenAlex.
- Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.BioMed research international · 2014Review
- Spectrum of paediatric lysosomal storage disorders in oman.Sultan Qaboos University medical journal · 2012Article
- Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.Human molecular genetics · 2012Article
- The neuronal ceroid-lipofuscinoses. Recent advances.Brain pathology (Zurich, Switzerland) · 1998Article
- Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.Journal of inherited metabolic disease · 1996Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
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 on DNA from the patient and his family suggests the presence of a cytogenetically undetectable deletion, which was confirmed by Southern blot analysis. The microdeletion is embedded in a region containing chromosome 16-specific repeated sequences. However, putative candidates for CLN3, members of the highly homologous sulfotransferase gene family, which are also present in this region in several copies, were not deleted in the patient. If the microdeletion in this patient is responsible for Batten disease, then we conclude that the sulfotransferase genes are probably not involved in JNCL. By use of markers and probes flanking D16S298, the maximum size of the microdeletion was determined to be approximately 29 kb. The microdeletion may affect the CLN3 gene, which is expected to be in close proximity to D16S298.
Indexed as
Identifiers
7887420PMC1801154W1647290977What OpenQuestion holds
Registered trials
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