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Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy
- Publication Year :
- 2007
-
Abstract
- Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene.Twenty-seven families (86 affected individuals, 52 women) with at least two affected members with JME were selected. DNA was isolated from peripheral blood lymphocytes by standard methods and each exon of the EFHC1 gene was amplified and sequenced using intronic primers.Two heterozygous mutations were identified in three unrelated families. One (R353 W) was a novel missense mutation, while the F229 L mutation was previously described (say which on of the two occurred in two families). Both mutations cosegregated with the disease. In a fourth family, the variant 545G-->A (resulting in the amino acid substitution R182 H) cosegregated with JME.The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME.
- Subjects :
- Adult
Male
Adult, Calcium-Binding Protein
European Continental Ancestry Group
DNA Mutational Analysis
Mutation, Missense
Juvenile
White People
genetics, Family, Female, Genetic Heterogeneity, Genetic Testing, Humans, Italy
Adult, Calcium-Binding Proteins
genetics, Chromosome Mapping, DNA Mutational Analysis, European Continental Ancestry Group
epidemiology, Male, Middle Aged, Mutation
Missense
genetics, Mutation
genetics, Myoclonic Epilepsy
epidemiology/ethnology/genetics, Pedigree, Phenotype
Genetic Heterogeneity
Humans
genetics
Family
Genetic Testing
epidemiology/ethnology/genetics
Calcium-Binding Proteins
Myoclonic Epilepsy, Juvenile
Chromosome Mapping
Middle Aged
Pedigree
Phenotype
Myoclonic Epilepsy
Italy
Mutation
epidemiology
Female
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.pmid.dedup....97100afcc222934786dc9496f8600a4b