Document Detail


Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families.
MedLine Citation:
PMID:  18231815     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Benign adult familial myoclonic epilepsy (BAFME or FAME) is an autosomal dominant condition, characterized by shivering-like tremors of cortical origin, myoclonus, and epilepsy. Linkage to chromosomes 2p11.1-q12.2 and 8q23.1-q24.11 has been reported in Japanese and Italian families, respectively. We aimed to determine whether a common founder haplotype was shared by five BAFME families from southern Italy and attempted preliminary genotype-phenotype correlation analyses. Five Italian BAFME families were identified. One family has not been previously reported. DNA from 53 affected individuals was genotyped with highly polymorphic microsatellite markers spanning chromosomes 2p11.1-q12.2 and 8q23.1-q24.11. Multipoint linkage analysis was performed using LINKMAP 5.1 software assuming an autosomal dominant trait with 0.99 penetrance and frequency of 0.001. Significant linkage was found on chromosome 2p11.1-q12.2 and a maximum cumulative lod score of 18.5 was found for markers D2S2161 and D2S388. The haplotype "5332" of adjacent markers D2S388, D2S2216, D2S113, and D2S2175 segregates with the disease in all families indicating that the same mutation inherited from a common ancestor segregates in these families. Preliminary genotype-phenotype showed that patients carrying the disease haplotype show minor clinical differences, suggesting that expressivity of the founder mutation is not markedly influenced by other factors. The identification of causative mutations in BAFME requires an extensive and collaborative screening effort.
Authors:
Francesca Madia; Pasquale Striano; Carlo Di Bonaventura; Arturo de Falco; Fabrizio A de Falco; Mario Manfredi; Giorgio Casari; Salvatore Striano; Carlo Minetti; Federico Zara
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Publication Detail:
Type:  Journal Article     Date:  2008-01-30
Journal Detail:
Title:  Neurogenetics     Volume:  9     ISSN:  1364-6753     ISO Abbreviation:  Neurogenetics     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-04-16     Completed Date:  2009-06-15     Revised Date:  2011-11-24    
Medline Journal Info:
Nlm Unique ID:  9709714     Medline TA:  Neurogenetics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  139-42     Citation Subset:  IM    
Affiliation:
Laboratory of Human Genetics, Galliera Hospitals, Genoa, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adult
Chromosome Mapping
Chromosomes, Human, Pair 2 / genetics*
Epilepsies, Myoclonic / genetics*
Female
Founder Effect*
Genes, Dominant
Genetic Markers
Genotype
Haplotypes
Humans
Italy
Lod Score
Male
Mutation
Pedigree
Phenotype
Grant Support
ID/Acronym/Agency:
GGP06180//Telethon; GTB07001//Telethon
Chemical
Reg. No./Substance:
0/Genetic Markers

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