Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin

Lafora disease (LD) is an autosomal recessive, progressive disorder characterized by myoclonus and seizures, inexorable neurologic deterioration, cognitive decline and poor prognosis. LD is caused by mutations either in the EPM2A or in NHLRC1 genes. Here we report clinical and genetic findings on 14...

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Bibliographic Details
Published in:Clinical genetics 2016-01, Vol.89 (1), p.104-108
Main Authors: Kecmanović, M., Jović, N., Keckarević-Marković, M., Keckarević, D., Stevanović, G., Ignjatović, P., Romac, S.
Format: Article
Language:English
Subjects:
Adolescent
Alleles
Biopsy
Carrier Proteins - genetics
Child
Chromosome deletion
Cognitive ability
DNA Mutational Analysis
Female
Follow-Up Studies
Founder effect
Gene deletion
Genes
Genetic Association Studies
Genetic disorders
Haplotypes
Hereditary diseases
Humans
Lafora disease
Lafora Disease - diagnosis
Lafora Disease - genetics
Male
Mutation
Myoclonus
Neural coding
NHLRC1 gene
Protein Tyrosine Phosphatases, Non-Receptor - genetics
Seizures
Serbian/Montenegrin population
Skin - metabolism
Skin - pathology
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Summary:Lafora disease (LD) is an autosomal recessive, progressive disorder characterized by myoclonus and seizures, inexorable neurologic deterioration, cognitive decline and poor prognosis. LD is caused by mutations either in the EPM2A or in NHLRC1 genes. Here we report clinical and genetic findings on 14 LD patients from 10 families of Serbian/Montenegrin origin. Molecular diagnostics was performed by sequencing the coding regions of the EPM2A and NHLRC1 genes. In addition, haplotype analysis of the chromosomes carrying the two most frequent mutations (c.1048‐1049delGA and deletion of the whole NHLRC1 gene) using eight different markers flanking the NHLRC1 gene was conducted. We identified one new mutation (c.1028T>C) along with the 3 previously reported mutations (c.1048‐1049delGA, c.990delG, deletion of the whole NHLRC1 gene), all of which were located on the NHLRC1 gene. The two predominant mutations (c.1048‐1049delGA and complete NHLRC1 gene deletion) appear to be founder mutations. In addition to documenting the genetic heterogeneity observed for LD, our study suggests that mutations in the NHLRC1 gene may be a common cause of LD in the Serbian/Montenegrin population, primarily because of a founder effect.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12570