Premium
Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses
Author(s) -
Mole S. E.
Publication year - 1996
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799253
Subject(s) - batten disease , biology , genetics , neuronal ceroid lipofuscinosis , gene , point mutation , human genetics , gene product , molecular genetics , phenotype , mutation , gene expression
Summary 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.