Charcot‐Marie‐Tooth disease: frequency of genetic subtypes in a Southern Italy population. Issue 4 (December 2014)

• Record Type: Journal Article
• Authors: Manganelli, Fiore; Tozza, Stefano; Pisciotta, Chiara; Bellone, Emilia; Iodice, Rosa; Nolano, Maria; Geroldi, Alessandro; Capponi, Simona; Mandich, Paola; Santoro, Lucio
• Is Part Of: Journal of the peripheral nervous system. Volume 19:Issue 4(2014)
• Page Start: 292
• Page End: 298
• Publication Date: 2014-12
• Subjects: Nervous system -- Periodicals; Nerves, Peripheral -- Diseases -- Periodicals; Peripheral Nervous System Diseases -- Periodicals; Peripheral Nervous System -- Periodicals; 612.81
• DOI: 10.1111/jns.12092
• Languages: English
• ISSNs: 1085-9489

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <p>The objective of this study is to assess the genetic distribution of Charcot‐Marie‐Tooth (CMT) disease in Campania, a region of Southern Italy. We analyzed a cohort of 197 index cases and reported the type and frequency of mutations for the whole CMT population and for each electrophysiological group (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]) and for familial and isolated CMT cases. Genetic diagnosis was achieved in 148 patients (75.1%) with a higher success rate in HNPP and CMT1 than CMT2. Only four genes (<italic>PMP22</italic>, <italic>GJB1</italic>, <italic>MPZ</italic>, and <italic>GDAP1</italic>) accounted for 92% of all genetically confirmed CMT cases. In CMT1, <italic>PMP22</italic> duplication was the most common mutation while the second gene in order of frequency was <italic>MPZ</italic> in familial and <italic>SH3TC2</italic> in isolated cases. In CMT2, <italic>GJB1</italic> was the most frequent mutated gene and <italic>GJB1</italic> with <italic>GDAP1</italic> accounted for almost 3/4 of genetically defined CMT2 patients. The first gene in order of frequency was <italic>GJB1</italic> in familial and <italic>GDAP1</italic> in isolated cases. In HNPP, the majority of patients harbored the <italic>PMP22</italic> gene deletion. The novelty of our data is the relatively high frequency of <italic>SH3TC2</italic> and <italic>GDAP1</italic> mutations in demyelinating and axonal forms, respectively. These epidemiological data can help in panel design for our patients' population.</p> </abstract>