Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis.
Ann Neurol
; 43(1): 106-10, 1998 Jan.
Article
em En
| MEDLINE
| ID: mdl-9450775
ABSTRACT
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 protein. Thus, a single point mutation at residue 295 of the CLN3 protein in protracted JNCL may underlie the phenotype in this form, which differs from that in classic JNCL.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Heterozigoto
/
Lipofuscinoses Ceroides Neuronais
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Estados Unidos