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Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin
- Source :
- Clinical Genetics. 89:104-108
- Publication Year :
- 2015
- Publisher :
- Wiley, 2015.
-
Abstract
- 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.
- Subjects :
- 0301 basic medicine
Genetics
education.field_of_study
Mutation
Genetic heterogeneity
Population
Haplotype
Biology
medicine.disease
medicine.disease_cause
Lafora disease
3. Good health
03 medical and health sciences
030104 developmental biology
0302 clinical medicine
medicine
Allele
Cognitive decline
education
030217 neurology & neurosurgery
Genetics (clinical)
Founder effect
Subjects
Details
- ISSN :
- 00099163
- Volume :
- 89
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi...........173098bbefc50775d1935a30045e0e31