Ke. Wisniewski et al., COMPOUND HETEROZYGOUS GENOTYPE IS ASSOCIATED WITH PROTRACTED JUVENILENEURONAL CEROID-LIPOFUSCINOSIS, Annals of neurology, 43(1), 1998, pp. 106-110
We present a clinicopathological study and the first molecular genetic
analysis of a family with 2 siblings affected by a rare, protracted f
orm of juvenile neuronal ceroid lipofuscinosis (JNCL). Molecular genet
ic studies showed that both sibling, in addition to being heterozygous
for the 1.02-kb CLN3 deletion, a common mutation in JNCL, also had a
G-to-A missense mutation at nucleotide 1,020 of the CLN3 cDNA sequence
on the non-1.02-kb deletion chromosomes. This point mutation resulted
in a substitution of glutamic acid by lysine at position 295 of the C
LN3 protein. Thus, a single point mutation at residue 295 of the CLN3
protein in protracted JNCL may underlie the phenotype in this form, wh
ich differs from that in classic JNCL.