Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.
J Neurol Neurosurg Psychiatry
; 81(9): 973-7, 2010 Sep.
Article
em En
| MEDLINE
| ID: mdl-20562457
ABSTRACT
OBJECTIVE:
To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. PATIENTS ANDMETHODS:
Twenty-five CMS patients from 18 independent families were included in the study. Known CMS genes were sequenced and restriction digest for the mutation RAPSN p.N88K was performed in all patients.RESULTS:
We identified recessive mutations of CHRNE in ten families, mutations in DOK7 in three families and mutations in COLQ, CHRNA1 and CHRNB1 in one family each. The mutation CHRNE c.70insG was found in six families. We have repeatedly identified this mutation in patients from Spain and Portugal and haplotype studies indicate that CHRNE c.70insG derives from a common ancestor.CONCLUSIONS:
Recessive mutations in CHRNE are the major cause of CMS in Southern Brazil with a common mutation introduced by Hispanic settlers. The second most common cause is mutations in DOK7. The minimum prevalence of CMS in Parana is 0.18/100 000.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndromes Miastênicas Congênitas
/
Genes Recessivos
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
J Neurol Neurosurg Psychiatry
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Reino Unido