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The 2021 Version of the Gene Table of Neuromuscular Disorders (Nuclear Genome) Louise Benarroch, Gisèle Bonne, Francois Rivier, Dalil Hamroun

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The 2021 Version of the Gene Table of Neuromuscular Disorders (Nuclear Genome) Louise Benarroch, Gisèle Bonne, Francois Rivier, Dalil Hamroun The 2021 version of the gene table of neuromuscular disorders (nuclear genome) Louise Benarroch, Gisèle Bonne, Francois Rivier, Dalil Hamroun To cite this version: Louise Benarroch, Gisèle Bonne, Francois Rivier, Dalil Hamroun. The 2021 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscular Disorders, Elsevier, 2020, 30 (12), pp.1008-1048. 10.1016/j.nmd.2020.11.009. hal-03144209 HAL Id: hal-03144209 https://hal.archives-ouvertes.fr/hal-03144209 Submitted on 17 Feb 2021 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Available online at www.sciencedirect.com Neuromuscular Disorders 30 (2020) 1008–1048 www.elsevier.com/locate/nmd The 2021 version of the gene table of neuromuscular disorders (nuclear genome) a a, ∗ b c Louise Benarroch , Gisèle Bonne , François Rivier , Dalil Hamroun a Sorbonne Université, INSERM UMRS_974, Centre de Recherche en Myologie, Institut de Myologie, G.H. Pitié-Salpêtrière, Paris, France b Neuropédiatrie & CR Maladies Neuromusculaires, CHU de Montpellier, U1046 INSERM, UMR9214 CNRS, Université de Montpellier, France c CHRU de Montpellier, Direction de la Recherche et de l’Innovation, Hôpital La Colombière, Montpellier, France Received 18 November 2020 General features 14. Hereditary motor and sensory neuropathies; 15. Hereditary paraplegias; This table is published annually in the December issue. Its 16. Other neuromuscular disorders. purpose is to provide the reader of Neuromuscular Disorders with an updated list of monogenic neuromuscular diseases In each group every entry corresponds to a clinical- due to a primary defect residing in the nuclear genome. It genetic entity and has an item number. 2 A given gene may comprises diseases in which the causative gene is known be involved in several different clinical entities (phenotypic or at least localized on a chromosome, if not yet identified. heterogeneity such as in LMNA defects) and conversely a Diseases for which the locus has not been mapped or which given clinical entity may be produced by a defect in several are due to defects involving mitochondrial genes are not possible alternative genes (genotypic heterogeneity such as 1 included. in CMT). In some diseases both kinds of heterogeneity may As in past years the diseases are classified into 16 groups: occur. As a consequence a gene or a disease may be cited in several places of the table. 1. Muscular dystrophies; 2. Congenital muscular dystrophies; The two versions of the gene table 3 3. Congenital myopathies; 4. Distal myopathies; The annual printed version below is abridged and does 5. Other myopathies; not contain the Arrhythmogenic Hereditary Cardiomyopathies 6. Myotonic syndromes; (Group 10-B), Hereditary Ataxias (Group 13), and Hereditary 7. Ion channel muscle diseases; Paraplegias (Group 15) . The list of references is restricted 8. Malignant hyperthermias; to new key references corresponding to the items added or 9. Metabolic myopathies; implemented since the preceding year. 10. Hereditary cardiomyopathies, subdivided into The full online version contains the complete data of the 10A (non-arrhythmogenic) and 16 groups and the cumulative list of key references since 10B (arrhythmogenic); 1991. It is freely accessible at http://www.musclegenetable.fr. 11. Congenital myasthenic syndromes; It is designed to cope with the complexity described above. 12. SMA & Motor neurone diseases; In this version the data are cross-referenced and linked 13. Hereditary ataxias; to PubMed and to major databases related to molecular ∗ Corresponding author. Sorbonne Université, INSERM UMRS974, Centre de Recherche en Myologie, Paris, France. Fax: +33 1 42 16 57 00. 2 The assigned item number is provisional and may change in the next E-mail address: [email protected] (G. Bonne). annual version. 1 For diseases caused by mitochondrial genome mutations see: MITOMAP 3 The history and development of both versions of the table are presented A human mitochondrial genome database. A compendium of polymorphisms in the 2013 publication (Kaplan JC and Hamroun D. The 2013 version of and mutations of the human mitochondrial DNA http://www.mitomap.org/ the gene table of neuromuscular disorders. Neuromuscul Disord. 22 (12), MITOMAP. 1108–1135.) https://doi.org/10.1016/j.nmd.2020.11.009 0960-8966/© 2020 Published by Elsevier B.V. L. Benarroch, G. Bonne, F. Rivier et al. Neuromuscular Disorders 30 (2020) 1008–1048 medicine (Leiden Muscular Dystrophy, OMIM, NCBI, This work received funding from the European Union’s Genatlas, Orphanet, GeneCards) . It contains several query Horizon 2020 research and innovation programme under tools allowing one to perform a variety of interrogations. grant agreement No. 779257 (Solve-RD). L. Benarroch is This computerized version of the table is now surpassing supported by a MK-UK and Cure-CMD grant (# 18GROI- the printed version which cannot accommodate the ever PG24-0140). 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 New in the 2021 printed version of the gene table displayed, printed and exported in Excel format. 18 genes added and 1 duplication: Overview of the new data in the 2021 printed version of the gene table (pages 1008 to 1048 of this issue) ADCY6 (item # 12.83) ADGRG6 (item # 12.84) There are 37 new items, marked by background shading. GBF1 (item # 12.39) Altogether they comprise 18 additional genes, 1 duplication GIPC1 (item # 5.20) on chromosme 11 (item # 2.31) and 18 additional GLDN (item # 12.86) phenotypic variants caused by a gene already listed in the ITPR3 (item # 14.12) 2020 version (see box). JAG1 (item # 14.74) The new key references of the printed version of the table MCM3AP (item # 12.98) are listed on pages 1047-1048 in this issue. MPDU1 (item # 2.36) As a reminder, we implemented the revised nomenclature NEK9 (item # 12.85) of LGMD (group 1) proposed by Straub et al. (2018), keeping NMNAT2 (item # 14.115) the previous nomenclature in parallel in order to allow a POPDC3 (item # 1.52) smooth transition for users. For CMT (group 14), we decided SLC9A3R1 (item # 14.124) not to implement the proposed revised nomenclature (Maguy SMPD4 (item # 16.25) et al. 2018) in the present released printed version of the SORD (item # 14.93) gene table of neurouscular disorders, in order to allow further SVIL (item # 5.11) time for the neuromuscular community to fully validate these UNC45B (item # 3.63) proposed nomenclatures. ZBTB42 (item # 12.81) Citation of the gene table 11q13.2q14.1 duplication (item # 2.31) – Printed version: Benarroch L, Bonne G, Rivier F, Hamroun 18 additional phenotypic variants caused by D. The 2021 version of the gene table of neuromuscular mutation in a gene already listed in thegene table disorders. Neuromuscul Disord. 30 (12), 1008-1048. ACTN2 (item # 4.25) – Online version: GeneTable of Neuromuscular Disorders: AGRN (item # 16.31) http://www.musclegenetable.fr CNTNAP1 (item # 12.82 and 14.35) DNAJB6 (item # 4.23) Contact DNM2 (item # 12.80) Users of the gene table are kindly requested to send HSPB8 (item # 4.26) any comments on the printed and/or the online version to MACF1 (item # 16.79) [email protected] . MYBPC1 (item # 12.79) MYH7 (item # 3.62) Acknowledgements MYOT (item # 10.102) We are extremely thankful to Jean-Claude Kaplan for his NEB (item # 4.12) constant trust and support in giving us the opportunity to take POMK (item # 1.61) over the maintenance of the “Muscle Gene Table” he initiated RYR1 (item # 3.64) in 1991. We sincerely wish him an enjoyable retirement from SCN11A (item # 14.114) the Gene Table, knowing he will keep a kindly eye on it. SCN9A (item # 14.113) We sincerely thank Tanya Stojkovic for her careful review of SQSTM1 + TIA1 (item # 4.8) (Digenism) entries in groups 12 and 14, Volker Straub for his careful TTN (item # 12.87) review of entries in group 1. 40 new key references We acknowledge the help of Myobase, a bibliographic alert system of the AFM (Asscociation Française contre les Myopathies), URL: http:// www.myobase.org/ We are extremely appreciative of the invaluable assistance provided by Jane Miller at all stages of elaboration and editing of this table. 1009 Available online at www.sciencedirect.com Neuromuscular Disorders 30 (2020) 1008–1048 www.elsevier.com/locate/nmd Gene table of monogenic neuromuscular disorders (nuclear genome only) Vol. 30 No. 12, December 2020 A computerized version of the table is freely accessible at http:// www.musclegenetable.fr/ Shaded background indicates newly added items. DISEASE NAME Item line Inheritance Locus or Chromosome Gene Protein Key references Other allelic disease(s) (group in this disease symbol symbol and (mitochondrial in this table) group and OMIM OMIM proteins indicated by number number symbol [M]) GROUP 1. MUSCULAR DYSTROPHIES Duchenne muscular 1.1 XR DMD Xp21.2-p21.1 DMD Dystrophin Monaco et al. (1986) allelic to CMD3B (group10) dystrophy; 310200 300377 Burghes et al. (1987) Becker muscular BMD Koenig et al. (1987, dystrophy 300376 1988) Hoffman et al. (1987, 1988) Emery-Dreifuss muscular 1.2 XR EDMD1 Xq28 EMD Emerin Hodgson et al. (1986) dystrophy, X-linked, type 310300 300384 Romeo et al. (1988) 1 Bione et al. (1994, 1995) Klauck et al. (1995) Nigro et al. (1995) Emery-Dreifuss muscular 1.3 XR EDMD6 Xq26.3 FHL1 Four and a half LIM Gueneau et al.
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