Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.
Neurology
; 70(22 Pt 2): 2137-44, 2008 May 27.
Article
en En
| MEDLINE
| ID: mdl-18505993
ABSTRACT
BACKGROUND:
Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, the GENESS Consortium demonstrated four missense mutations in Myoclonin1/EFHC1 of chromosome 6p12.1 segregating in 20% of Hispanic families with JME.OBJECTIVE:
To examine what percentage of consecutive JME clinic cases have mutations in Myoclonin1/EFHC1.METHODS:
We screened 44 consecutive patients from Mexico and Honduras and 67 patients from Japan using heteroduplex analysis and direct sequencing.RESULTS:
We found five novel mutations in transcripts A and B of Myoclonin1/EFHC1. Two novel heterozygous missense mutations (c.755C>A and c.1523C>G) in transcript A occurred in both a singleton from Mexico and another singleton from Japan. A deletion/frameshift (C.789del.AV264fsx280) in transcript B was present in a mother and daughter from Mexico. A nonsense mutation (c.829C>T) in transcript B segregated in four clinically and seven epileptiform-EEG affected members of a large Honduran family. The same nonsense mutation (c.829C>T) occurred as a de novo mutation in a sporadic case. Finally, we found a three-base deletion (-364--362del.GAT) in the promoter region in a family from Japan.CONCLUSION:
Nine percent of consecutive juvenile myoclonic epilepsy cases from Mexico and Honduras clinics and 3% of clinic patients from Japan carry mutations in Myoclonin1/EFCH1. These results represent the highest number and percentage of mutations found for a juvenile myoclonic epilepsy causing gene of any population group.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas de Unión al Calcio
/
Salud de la Familia
/
Epilepsia Mioclónica Juvenil
/
Mutación
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
America central
/
Asia
/
Honduras
/
Mexico
Idioma:
En
Revista:
Neurology
Año:
2008
Tipo del documento:
Article
País de afiliación:
Honduras