Please use this identifier to cite or link to this item:
Title: A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
Authors: ESTEPHAN, Eduardo de PaulaSOBREIRA, Claudia Ferreira da RosaSANTOS, Andre Cleriston Jose dosTOMASELLI, Pedro JoseMARQUES JR., WilsonORTEGA, Roberta Paiva MagalhesCOSTA, Marcela Camara MachadoSILVA, Andre Macedo Serafim daMENDONCA, Rodrigo HolandaCALDAS, Vitor MarquesZAMBON, Antonio AlbertoABATH NETO, OsorioMARCHIORI, Paulo EuripedesHEISE, Carlos OttoREED, Umbertina ContiAZUMA, YoshiteruTOPF, AnaLOCHMULLER, HannsZANOTELI, Edmar
Citation: JOURNAL OF NEUROLOGY, v.265, n.3, p.708-713, 2018
Abstract: The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study found the c.130dupG CHRNE mutation in up to 33% of families with CMS. Here, we aimed to verify the frequency of this mutation among individuals with CMS in a larger cohort of CMS patients from different areas of Brazil and to characterize clinical features of these patients. Eighty-four patients with CMS, from 72 families, were clinically evaluated and submitted to direct sequencing of the exon 2 of CHRNE. The c.130dupG mutation was found in 32 patients (23 families), with 26 patients (19 families, 26.3%) in homozygosis, confirming its high prevalence in different regions of Brazil. Among the homozygous patients, the following characteristics were frequent: onset of symptoms before 2 years of age (92.3%), little functional restriction (92.3%), fluctuating symptoms (100%), ocular muscle impairment (96.1%), ptosis (100%), limb weakness (88.4%), response to pyridostigmine (100%), facial involvement (77%), and bulbar symptoms (70.8%). The pretest probability of finding at least one allele harbouring the c.130dupG mutation was 38.1%. Selecting only patients with impaired eye movement together with limb weakness and improvement with pyridostigmine, the probability increases to 72.2%. This clinical pre-selection of patients is likely a useful tool for regions where CHRNE mutations have a founder effect. In conclusion, the CHRNE mutation c.130dupG leads to fairly benign natural course of the disease with relative homogeneity.
Appears in Collections:

Artigos e Materiais de Revistas Científicas - FM/MNE
Departamento de Neurologia - FM/MNE

Artigos e Materiais de Revistas Científicas - HC/ICHC
Instituto Central - HC/ICHC

Artigos e Materiais de Revistas Científicas - LIM/15
LIM/15 - Laboratório de Investigação em Neurologia

Artigos e Materiais de Revistas Científicas - LIM/45
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica

Files in This Item:
File Description SizeFormat 
  Restricted Access
publishedVersion (English)712.22 kBAdobe PDFView/Open Request a copy

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.