Luca Gentile1, Massimo Russo2, Gian Maria Fabrizi3, Federica Taioli3, Moreno Ferrarini3, Silvia Testi3, Annalisa Alfonzo1, M'Hammed Aguennouz1, Antonio Toscano1, Giuseppe Vita1, Anna Mazzeo1. 1. Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, via Consolare Valeria 1, 98125, Messina, ME, Italy. 2. Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, via Consolare Valeria 1, 98125, Messina, ME, Italy. russom@unime.it. 3. Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Via S. Francesco, 22, 37129, Verona, VR, Italy.
Abstract
INTRODUCTION: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disease. Thanks to the advances of the latest generation sequencing, more than 80 causative genes have been reported to date. METHODS: In this retrospective, observational study, we have analyzed clinical, electrophysiological, and genetic data of CMT patients in care at Neuromuscular Center of Messina University Hospital, Messina, Italy, for at least 22 years (from 1994 to 2016). Our center is the only reference center for genetic neuropathies in Sicily and in the southern part of Calabria. RESULTS: We reviewed the clinical records of 566 patients with the aim to evaluate how many patients received a genetic diagnosis and the distribution of the genetic subtypes. About 352/566 (62.19%) received a genetic diagnosis. The most frequent genetic diagnoses were CMT1A/PMP22 duplication (51.13%), followed by HNPP/PMP22 deletion (15.05%), CMT1B/MPZ mutation (10.22%), CMTX/GJB1 mutation (9.37%), and CMT2F/HSPB1 (4%). Other rare mutations included MFN2 mutation (n. 8 pts), BSCL2 mutation (n.8 pts), PMP22 point mutation (n.7 pts), GDAP1 mutation (n.4 pts), GARSmutation (n. 2 pts), TRPV4 mutation (n. 2 pts), LITAF mutation (n.1 pt), and NEFL mutation (n. 1 pt). CONCLUSIONS: Our study provides further data on frequency of CMT genes, subtypes in a wide Mediterranean area and contributes to help clinicians in addressing the genetic testing workup.
INTRODUCTION:Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disease. Thanks to the advances of the latest generation sequencing, more than 80 causative genes have been reported to date. METHODS: In this retrospective, observational study, we have analyzed clinical, electrophysiological, and genetic data of CMT patients in care at Neuromuscular Center of Messina University Hospital, Messina, Italy, for at least 22 years (from 1994 to 2016). Our center is the only reference center for genetic neuropathies in Sicily and in the southern part of Calabria. RESULTS: We reviewed the clinical records of 566 patients with the aim to evaluate how many patients received a genetic diagnosis and the distribution of the genetic subtypes. About 352/566 (62.19%) received a genetic diagnosis. The most frequent genetic diagnoses were CMT1A/PMP22 duplication (51.13%), followed by HNPP/PMP22 deletion (15.05%), CMT1B/MPZ mutation (10.22%), CMTX/GJB1 mutation (9.37%), and CMT2F/HSPB1 (4%). Other rare mutations included MFN2 mutation (n. 8 pts), BSCL2 mutation (n.8 pts), PMP22 point mutation (n.7 pts), GDAP1 mutation (n.4 pts), GARSmutation (n. 2 pts), TRPV4 mutation (n. 2 pts), LITAF mutation (n.1 pt), and NEFL mutation (n. 1 pt). CONCLUSIONS: Our study provides further data on frequency of CMT genes, subtypes in a wide Mediterranean area and contributes to help clinicians in addressing the genetic testing workup.
Authors: M Comella; A Collotta; V Pavone; L Ciccia; A Bellinvia; C Cerruto; M G L Biondi; F Pisani; P Pavone Journal: Case Rep Pediatr Date: 2022-04-11
Authors: Sumaira Kanwal; Yu JIn Choi; Si On Lim; Hee Ji Choi; Jin Hee Park; Rana Nuzhat; Aneela Khan; Shazia Perveen; Byung-Ok Choi; Ki Wha Chung Journal: BMC Med Genomics Date: 2021-06-30 Impact factor: 3.063
Authors: Si On Lim; Na Young Jung; Ah Jin Lee; Hee Ji Choi; Hye Mi Kwon; Wonseok Son; Soo Hyun Nam; Byung-Ok Choi; Ki Wha Chung Journal: Genes (Basel) Date: 2022-03-05 Impact factor: 4.096