Journal article
A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis
Journal of child neurology, Vol.28(9), pp.1112-1116
09/2013
DOI: 10.1177/0883073813494812
PMID: 23877479
Abstract
Neuronal ceroid lipofuscinosis is the most common childhood neurodegenerative disorder in the world, with an incidence of 1 in 100,000 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.
Details
- Title: Subtitle
- A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis
- Creators
- Arlene V Drack - Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USAJake N Miller - University of South DakotaDavid A Pearce
- Resource Type
- Journal article
- Publication Details
- Journal of child neurology, Vol.28(9), pp.1112-1116
- Publisher
- United States
- DOI
- 10.1177/0883073813494812
- PMID
- 23877479
- ISSN
- 0883-0738
- eISSN
- 1708-8283
- Language
- English
- Date published
- 09/2013
- Academic Unit
- Stead Family Department of Pediatrics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980055402771
Metrics
22 Record Views