Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12857/116006
Title: Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease
Authors: Bergamin, Giorgia
Boaretto, Francesca 
Briani, Chiara 
Pegoraro, Elena 
Cacciavillani, Mario
Martinuzzi, Andrea 
Muglia, Maria
Vettori, Andrea 
Vazza, Giovanni 
Mostacciuolo, Maria Luisa 
Keywords: Axonal neuropathy;Charcot-Marie-Tooth disease;Molecular diagnosis;Mutation screening
Keywords Plus: MITOFUSIN 2 GENE;SENSORY NEUROPATHY;HEREDITARY MOTOR;INHERITED NEUROPATHIES;POINT MUTATIONS;ONSET;TYPE-2;PHENOTYPE;LIABILITY;FEATURES
Mesh headings: Charcot-Marie-Tooth Disease;Connexins;GTP Phosphohydrolases;Mitochondrial Proteins;Myelin P0 Protein;Myelin Proteins
Secondary Mesh headings: Adolescent;Adult;Age of Onset;Child;Child, Preschool;DNA Mutational Analysis;Female;Gene Duplication;Genes, Dominant;Genes, Recessive;Genotype;Humans;Infant;Italy;Male;Middle Aged;Mutation, Missense;Pedigree;Phenotype;Sequence Deletion;Symptom Assessment
Issue Date: Sep-2014
Publisher: HUMANA PRESS INC
Journal: Neuromolecular medicine 
Abstract: 
Charcot-Marie-Tooth (CMT) diseases include a group of clinically heterogeneous inherited neuropathies subdivided into demyelinating (CMT1), axonal (CMT2) and intermediate CMT forms. CMTs are associated with different genes, although mutations in some of these genes may cause both clinical pictures. To date, more than 50 CMT genes have been identified, but more than half of the cases are due to mutations in MFN2, MPZ, GJB1 and PMP22. The aim of this study was to estimate the frequency of disease mutations of these four genes in the axonal form of CMT in order to evaluate their effectiveness in the molecular diagnosis of CMT2 patients. A cohort of 38 CMT2 Italian subjects was screened for mutations in the MFN2, MPZ and GJB1 genes by direct sequencing and for PMP22 rearrangements using the MLPA technique. Overall, we identified 15 mutations, 8 of which were novel: 11 mutations (28.9 %) were in the MFN2 gene, 2 (5.3 %) in MPZ and 2 (5.3 %) in PMP22. No mutations were found in GJB1. Two patients showed rearrangements in the PMP22 gene, which is commonly associated with CMT1 or HNPP phenotypes thus usually not tested in CMT2 patients. By including this gene in the analysis, we reached a molecular diagnosis rate of 39.5 %, which is one of the highest reported in the literature. Our findings confirm the MFN2 gene as the most common cause of CMT2 and suggest that PMP22 rearrangements should be considered in the molecular diagnosis of CMT2 patients.
URI: http://hdl.handle.net/20.500.12857/116006
ISSN: 15351084
DOI: 10.1007/s12017-014-8307-9
Appears in Collections:Articles

Show full item record

PubMed Central
Citations 50

5
Last Week
0
Last month
checked on May 2, 2021

SCOPUSTM   
Citations 20

15
checked on Aug 31, 2020

WEB OF SCIENCETM
Citations

19
checked on Dec 2, 2021

Page view(s) 5

2
checked on Dec 6, 2021

Google ScholarTM

Check

Altmetric


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