title: New mutations in the neuronal ceroid lipofuscinosis genes.
abstract: Thirty-eight mutations and seven polymorphisms have recently been reported in the genes underlying the neuronal ceroid lipofuscinoses (NCLs) including 11 new mutations described here. A total of 114 mutations and 28 polymorphisms have now been described in the five human genes identified which cause NCL. Thirty-eight mutations are recorded for CLN1/PPT; 40 for CLN2/TTP-1, 31 for CLN3, four for CLN5, one for CLN8. Two mutations have been described in animal genes (cln8/mnd, CTSD). All mutations in NCL genes are contained in the NCL Mutation Database (http://www.ucl.ac.uk/NCL).
authors.affiliation: Department of Paediatrics and Child Health, University College London, Rayne Institute, 5 University Street, London WC1E 6JJ, UK. S.Mole@ucl.ac.uk
authors.forename: S E
authors.initials: SE
authors.lastname: Mole
authors.forename: N A
authors.initials: NA
authors.lastname: Zhong
authors.forename: A
authors.initials: A
authors.lastname: Sarpong
authors.forename: W P
authors.initials: WP
authors.lastname: Logan
authors.forename: S
authors.initials: S
authors.lastname: Hofmann
authors.forename: W
authors.initials: W
authors.lastname: Yi
authors.forename: P F
authors.initials: PF
authors.lastname: Franken
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: M H
authors.initials: MH
authors.lastname: Breuning
authors.forename: D
authors.initials: D
authors.lastname: Moroziewicz
authors.forename: W
authors.initials: W
authors.lastname: Ju
authors.forename: T
authors.initials: T
authors.lastname: Salonen
authors.forename: V
authors.initials: V
authors.lastname: Holmberg
authors.forename: I
authors.initials: I
authors.lastname: Järvelä
authors.forename: P E
authors.initials: PE
authors.lastname: Taschner
mesh_terms: D002648:Child; D006801:Humans; D020125:Mutation, Missense; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D000091346:Tripeptidyl-Peptidase 1