Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses

• Published in: Journal of inherited metabolic disease Vol. 19; no. 3; p. 269
• Main Author: Mole, S E
• Format: Journal Article
• Language: English
• Published: United States 01.01.1996
• Subjects: Chromosome Mapping; Humans; Mutation; Neuronal Ceroid-Lipofuscinoses - genetics
• ISSN: 0141-8955
• DOI: 10.1007/BF01799253

Major advances in the molecular genetic analysis of the neuronal ceroid lipofuscinoses (NCL) have recently been made: the genes for two major types have been identified and the chromosomal location for a third defined. CLN1, the gene for infantile NCL (Santavuori-Haltia disease) encodes palmitoyl protein thioesterase (PPT). Most patients (75% of disease chromosomes) have the same point mutation. In contrast, CLN3, the gene for juvenile NCL (Batten or Spielmeyer-Vogt-Sjögren disease) is not a previously known gene, nor does its product display homology to any previously described proteins. The same 1 kb genomic deletion is present in the majority of patients (81% of disease chromosomes). CLN5, the gene for Finnish variant late infantile NCL, has been mapped to 13q and should be identified in the near future. The gene for late-infantile NCL (Jansky-Bielschowsky disease) has not yet been localized to a chromosome despite intensive research. It is likely that this type of NCL is caused by mutations in more than one gene each resulting in the same phenotype.