Titre : | The 2021 version of the gene table of neuromuscular disorders (nuclear genome) |
Revue : | Neuromuscular disorders : NMD, 30, 12 |
Auteurs : | Benarroch L ; Bonne G ; Rivier F ; Hamroun D |
Type de document : | Article |
Editeur : | England, 12/2020 |
Pages : | p 1008 |
Langues: | Anglais |
Mots-clés : | article de type review ; classification des maladies ; gène ; hérédité ; maladie neuromusculaire |
Résumé : |
Extract from ScienceDirect onlien access to Neuromuscular Disorders :
General features This table is published annually in the December issue. Its purpose is to provide the reader of Neuromuscular Disorders with an updated list of monogenic neuromuscular diseases due to a primary defect residing in the nuclear genome. It comprises diseases in which the causative gene is known or at least localized on a chromosome, if not yet identified. Diseases for which the locus has not been mapped or which are due to defects involving mitochondrial genes are not included. As in past years the diseases are classified into 16 groups: 1. Muscular dystrophies; 2. Congenital muscular dystrophies; 3. Congenital myopathies; 4. Distal myopathies; 5. Other myopathies; 6. Myotonic syndromes; 7. Ion channel muscle diseases; 8. Malignant hyperthermias; 9. Metabolic myopathies; 10. Hereditary cardiomyopathies, subdivided into 10A (non-arrhythmogenic) and 10B (arrhythmogenic); 11. Congenital myasthenic syndromes; 12. SMA & Motor neurone diseases; 13. Hereditary ataxias; 14. Hereditary motor and sensory neuropathies; 15. Hereditary paraplegias; 16. Other neuromuscular disorders. In each group every entry corresponds to a clinical-genetic entity and has an item number. A given gene may be involved in several different clinical entities (phenotypic heterogeneity such as in LMNA defects) and conversely a given clinical entity may be produced by a defect in several possible alternative genes (genotypic heterogeneity such as in CMT). In some diseases both kinds of heterogeneity may occur. As a consequence a gene or a disease may be cited in several places of the table. The two versions of the gene table The annual printed version below is abridged and does not contain the Arrhythmogenic Hereditary Cardiomyopathies (Group 10-B), Hereditary Ataxias (Group 13), and Hereditary Paraplegias (Group 15). The list of references is restricted to new key references corresponding to the items added or implemented since the preceding year. The full online version contains the complete data of the 16 groups and the cumulative list of key references since 1991. It is freely accessible at http://www.musclegenetable.fr. It is designed to cope with the complexity described above. In this version the data are cross-referenced and linked to PubMed and to major databases related to molecular medicine (Leiden Muscular Dystrophy, OMIM, NCBI, Genatlas, Orphanet, GeneCards). It contains several query tools allowing one to perform a variety of interrogations. This computerized version of the table is now surpassing the printed version which cannot accommodate the ever increasing volume and complexity of data. The statistics tool instantly provides the latest list of genes, proteins, phenotypes and cumulative bibliographic key references. Each list can be displayed, printed and exported in Excel format. Overview of the new data in the 2021 printed version of the gene table (pages 1008 to 1048 of this issue) There are 37 new items, marked by background shading. Altogether they comprise 18 additional genes, 1 duplication on chromosme 11 (item # 2.31) and 18 additional phenotypic variants caused by a gene already listed in the 2020 version (see box). The new key references of the printed version of the table are listed on pages 1047-1048 in this issue. As a reminder, we implemented the revised nomenclature of LGMD (group 1) proposed by Straub et al. (2018), keeping the previous nomenclature in parallel in order to allow a smooth transition for users. For CMT (group 14), we decided not to implement the proposed revised nomenclature (Maguy et al. 2018) in the present released printed version of the gene table of neurouscular disorders, in order to allow further time for the neuromuscular community to fully validate these proposed nomenclatures. |
Lien associé : | http://www.musclegenetable.fr |
Pubmed / DOI : | Pubmed : 33257164 / DOI : 10.1016/j.nmd.2020.11.009 |
N° Profil MNM : | 2020121 |
En ligne : | http://www.ncbi.nlm.nih.gov/pubmed/31791870 |