A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

Genes

Eric Leguern¹  Marie-Claire Malinge²  Annamaria Molon³  Emmanuelle Pion⁴  Tanya Stojkovic⁵  Mireille Cossée⁶  Mathieu Cerino⁷  Shahram Attarian⁷  Nathalie Bonello-Palot⁷  Nicolas Lévy⁷  Martin Krahn⁷  Aurélien Perrin⁸  Philippe Latour⁹  Thibaut Benquey⁹  Corinne Magdelaine^1,10  Anne-Sophie Lia^1,10  Bruno Francou^1,11  Anne Guiochon-Mantel^1,11 

[1] Centre de Génétique Moléculaire et Chromosomique, UF de Neurogénétique Moléculaire et Cellulaire APHP, 75651 Paris, France;Département de Biochimie Génétique, UF de Biologie Moléculaire, CHU d’Angers, 49100 Angers, France;Filnemus, APHM, 13005 Marseille, France;Filnemus, CHRU Montpellier, 34093 Montpellier, France;Institut de Myologie, Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Hôpital Pitié-Salpêtrière, Sorbonne Université, 75013 Paris, France;Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France;Marseille Medical Genetics, INSERM, UMR 1251, Aix-Marseille Université, 13005 Marseille, France;PhyMedExp, Université de Montpellier, INSERM, CNRS, 34093 Montpellier, France;Service de Biochimie et Biologie Moléculaire Grand Est, Hospices Civils de Lyon, LBMMS, 69002 Lyon, France;Service de Biochimie et de Génétique Moléculaire, Centre de Biologie et de Recherche en Santé, CHU Limoges, 87042 Limoges, France;Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Centre Hospitalier Universitaire Bicêtre, Assistance Publique-Hôpitaux de Paris, 94270 Le Kremlin-Bicêtre, France;

关键词: rare diseases;    public health;    Charcot–Marie–Tooth disease;    next generation sequencing;    consensus gene list;   

DOI  :  10.3390/genes13020318

来源: DOAJ

【 摘 要 】

Next generation sequencing (NGS) is strategically used for genetic diagnosis in patients with Charcot–Marie–Tooth disease (CMT) and related disorders called non-syndromic inherited peripheral neuropathies (NSIPN) in this paper. With over 100 different CMT-associated genes involved and ongoing discoveries, an important interlaboratory diversity of gene panels exists at national and international levels. Here, we present the work of the French National Network for Rare Neuromuscular Diseases (FILNEMUS) genetic diagnosis section which coordinates the seven French diagnosis laboratories using NGS for peripheral neuropathies. This work aimed to establish a unique, simple and accurate gene classification based on literature evidence. In NSIPN, three subgroups were usually distinguished: (1) HMSN, Hereditary Motor Sensory Neuropathy, (2) dHMN, distal Hereditary Motor Neuropathy, and (3) HSAN, Hereditary Sensory Autonomic Neuropathy. First, we reported ClinGen evaluation, and second, for the genes not evaluated yet by ClinGen, we classified them as “definitive” if reported in at least two clinical publications and associated with one report of functional evidence, or “limited” otherwise. In total, we report a unique consensus gene list for NSIPN including the three subgroups with 93 genes definitive and 34 limited, which is a good rate for our gene’s panel for molecular diagnostic use.

【 授权许可】

Unknown