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Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

Lookup NU author(s): Dr Paulo Lorenzoni, Dr Juliane Mueller, Professor Hanns Lochmuller

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Abstract

Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana.Patients and methods 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.

Publication metadata

Author(s): Mihaylova V, Scola RH, Gervini B, Lorenzoni PJ, Kay CK, Werneck LC, Stucka R, Guergueltcheva V, von der Hagen M, Huebner A, Abicht A, Muller JS, Lochmuller H

Publication type: Article

Publication status: Published

Journal: Journal of Neurology, Neurosurgery and Psychiatry

Year: 2010

Volume: 81

Issue: 9

Pages: 973-977

Print publication date: 20/06/2010

ISSN (print): 0022-3050

ISSN (electronic): 1468-330X

Publisher: BMJ Group

URL: http://dx.doi.org/10.1136/jnnp.2009.177816

DOI: 10.1136/jnnp.2009.177816

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