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Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis
Author(s) -
Wisniewski K. E.,
Zhong N.,
Kaczmarski W.,
Kaczmarski A.,
Kida E.,
Brown W. T.,
Schwarz K. O.,
Lazzarini A. M.,
Rubin A. J.,
Stenroos E. S.,
Johnson W. G.,
Wisniewski T. M.
Publication year - 1998
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410430118
Subject(s) - point mutation , missense mutation , genetics , mutation , biology , genotype , compound heterozygosity , neuronal ceroid lipofuscinosis , batten disease , microbiology and biotechnology , phenotype , gene
We present a clinicopathological study and the first molecular genetic analysis of a family with 2 siblings affected by a rare, protracted form of juvenile neuronal ceroid lipofuscinosis (JNCL). Molecular genetic studies showed that both siblings, 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 CLN3 protien. Thus, a single point mutation at residue 295 of the CLN3 protien in protracted JNCL may underlie the phenotype in this form, which differs from that in classic JNCL.