Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis
| Autor: | N. Zhong, Edward S. Stenroos, Thomas Wisniewski, Wojciech Kaczmarski, Alice M. Lazzarini, E. Kida, Krystyna E. Wisniewski, A. J. Rubin, William G. Johnson, W T Brown, A. Kaczmarski, K. O. Schwarz |
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| Rok vydání: | 1998 |
| Předmět: |
Adult
Male Heterozygote Genotype Infantile neuronal ceroid lipofuscinosis Biology Compound heterozygosity Neuronal Ceroid-Lipofuscinoses medicine Missense mutation Humans Molecular Biology Skin Genetics Point mutation Electroencephalography Middle Aged medicine.disease Phenotype Pedigree Microscopy Electron Neurology CLN3 Mutation (genetic algorithm) Mutation Female Neurology (clinical) |
| Zdroj: | Annals of neurology. 43(1) |
| ISSN: | 0364-5134 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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