期刊
JOURNAL OF CHILD NEUROLOGY
卷 28, 期 9, 页码 1112-1116出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073813494812
关键词
Batten disease; CLN3; juvenile neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis
资金
- Sanford Health
- Beat Batten! Foundation
- Keech Professorship for Pediatric Genetic Eye Disease
Neuronal ceroid lipofuscinosis is the most common childhood neurodegenerative disorder in the world, with an incidence of 1 in 100000 live births. More than 400 mutations in at least 14 different genes are linked to multiple clinical variants. These progressive genetic disorders primarily manifest in the central nervous system due to an extensive loss of neurons, primarily in the cerebral and cerebellar cortices. Juvenile neuronal ceroid lipofuscinosis is the most common form and is primarily due to mutations in CLN3, which encodes a protein of unknown function. The most common such mutation in CLN3 is a 1.02-kb deletion that results in a frameshift and subsequent premature termination codon. Here we describe a patient with juvenile neuronal ceroid lipofuscinosis who has a novel c.1135_1138delCTGT mutation in CLN3. This deletion induces a frameshift and premature termination codon in CLN3 messenger ribonucleic acid that is likely recognized by nonsense-mediated decay and degraded, subsequently leading to decreased CLN3 protein abundance.
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