New mutations in the neuronal ceroid lipofuscinosis genes.
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).
Mole
S E
SE
Department of Paediatrics and Child Health, University College London, Rayne Institute, 5 University Street, London WC1E 6JJ, UK. S.Mole@ucl.ac.uk
Zhong
N A
NA
Sarpong
A
A
Logan
W P
WP
Hofmann
S
S
Yi
W
W
Franken
P F
PF
van Diggelen
O P
OP
Breuning
M H
MH
Moroziewicz
D
D
Ju
W
W
Salonen
T
T
Holmberg
V
V
Järvelä
I
I
Taschner
P E
PE
D002648:Child; D006801:Humans; D020125:Mutation, Missense; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D000091346:Tripeptidyl-Peptidase 1