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The 2018 Version of the Gene Table of Monogenic Neuromuscular Disorders (Nuclear Genome) Gisèle Bonne, Francois Rivier, Dalil Hamroun

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The 2018 Version of the Gene Table of Monogenic Neuromuscular Disorders (Nuclear Genome) Gisèle Bonne, Francois Rivier, Dalil Hamroun The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome) Gisèle Bonne, Francois Rivier, Dalil Hamroun To cite this version: Gisèle Bonne, Francois Rivier, Dalil Hamroun. The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome). Neuromuscular Disorders, Elsevier, 2017, 27 (12), pp.1152- 1183. 10.1016/j.nmd.2017.10.005. hal-01668854 HAL Id: hal-01668854 https://hal.sorbonne-universite.fr/hal-01668854 Submitted on 20 Dec 2017 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. The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome) Gisèle Bonnea,*, François Rivierb, Dalil Hamrounc aSorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, Centre de Recherche en Myologie, Institut de Myologie, G.H. Pitié-Salpêtrière, Paris, France bNeuropédiatrie & CR Maladies Neuromusculaires, CHU de Montpellier, U1046 INSERM, UMR9214 CNRS, Université de Montpellier, France cCHRU de Montpellier, Direction de la Recherche et de l’Innovation, Hôpital La Colombière, 39 Avenue Charles Flahault, Montpellier 34295, France General features In each group every entry corresponds to a clinical entity and has an item number.2A given gene may be involved in This table is published annually in the December issue. Its several different clinical entities (phenotypic heterogeneity purpose is to provide the reader of Neuromuscular Disorders such as in LMNA defects) and conversely a given clinical entity with an updated list of monogenic muscle diseases due to a may be produced by a defect in several possible alternative primary defect residing in the nuclear genome. It comprises genes (genotypic heterogeneity such as in CMT). In some diseases in which the causative gene is known or at least diseases both kinds of heterogeneity may occur. As a localized on a chromosome, if not yet identified. Diseases for consequence a gene or a disease may be cited in several places which the locus has not been mapped or which are due to of the table. defects involving mitochondrial genes are not included.1 As in past years the diseases are classified into 16 groups: The two versions of the gene table3 1. Muscular dystrophies; The annual printed version below is abridged and does not 2. Congenital muscular dystrophies; contain the Arrhythmogenic Hereditary Cardiomyopathies 3. Congenital myopathies; (Group 10-B), Hereditary Ataxias (Group 13), and Hereditary 4. Distal myopathies; Paraplegias (Group 15). The list of references is restricted to 5. Other myopathies; new key references corresponding to the items added or 6. Myotonic syndromes; implemented since the preceding year. 7. Ion channel muscle diseases; The full online version contains the complete data of the 16 8. Malignant hyperthermias; groups and the cumulative list of key references since 1991. It 9. Metabolic myopathies; is freely accessible at http://www.musclegenetable.fr.Itis 10. Hereditary cardiomyopathies, subdivided into designed to cope with the complexity described above. In this 10A (non-arrhythmogenic) and version the data are cross-referenced and linked to PubMed and 10B (arrhythmogenic); to major databases related to molecular medicine (Leiden 11. Congenital myasthenic syndromes; Muscular Dystrophy, OMIM, NCBI, Genatlas, Orphanet, 12. Motor neurone diseases; GeneCards). It contains several query tools allowing one to 13. Hereditary ataxias; perform a variety of interrogations. This computerized version 14. Hereditary motor and sensory neuropathies; of the table is now surpassing the printed version which cannot 15. Hereditary paraplegias; accommodate the ever increasing volume and complexity of 16. Other neuromuscular disorders. 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. * Corresponding author. Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, Centre de Recherche en Myologie, Paris, France. Fax: +33142165700. E-mail address: [email protected] (G. Bonne). 2 The assigned item number is provisional and may change in the next annual 1 For diseases caused by mitochondrial genome mutations see: MITOMAP A version. human mitochondrial genome database. A compendium of polymorphisms and 3 The history and development of both versions of the table are presented in mutations of the human mitochondrial DNA http://www.mitomap.org/ the 2013 publication (Kaplan JC and Hamroun D. The 2013 version of the gene MITOMAP. table of neuromuscular disorders. Neuromuscul Disord. 22 (12), 1108–1135.) ARTICLE IN PRESS Overview of the new data in the 2018 printed version of the gene table There are 35 new items, marked by background shading. Altogether they comprise 28 additional genes and 8 additional phenotypic variants caused by a gene already listed in the 2017 version (see box). Contact New in the 2017 printed version of the gene table Users of the gene table are kindly requested to send any 28 genes added: comments on the printed and/or the online version to [email protected]. AIFM1 (item # 16.34) CALR3 (item # 10.20) Acknowledgements CNTNAP1 (item # 16.15) We are extremely thankful to Jean-Claude Kaplan for his DSG2 (item # 10.59) constant trust and support in giving us the opportunity to take ERBB4 (item # 12.57) over the maintenance of the “Muscle Gene Table” he initiated FASTKD2 (item # 16.36) in 1991. We sincerely wish him an enjoyable retirement from the FLAD1 (item # 9.30) Gene Table, knowing he will keep a kindly eye on it. We sincerely HRAS (item # 3.50) thank Tanya Stojkovic for her careful review of entries in group INPP5K (item # 2.49) 14. LAMA5 (item # 11.35) We acknowledge the help of Myobase, a bibliographic alert MYMK (item # 3.51) system of the AFM (Asscociation Française contre les MYO18B (item # 3.49) Myopathies), URL: http://www.myobase.org/ MYPN (item # 3.11 and item # 10.23) We are extremely appreciative of the invaluable assistance NEFH (item # 14.66) provided by Jane Miller at all stages of elaboration and editing PMP2 (item # 14. 11) of this table. POGLUT1 (item # 1.46) PRDM1 (item # 10.68) PTRH2 (item # 16.37) RAF1 (item # 10.70) SGPL1 (item # 14.80) SLC18A3 (item # 11.27) SLC25A46 (item # 12.73) SPTBN4 (item # 3.47) TMEM65 (item # 16.35) TUBA4A (item # 12.60) VAMP1 (item # 11.34 and item #15.66) WARS (item # 12.23) ZAK (item # 3.48) 8 additional phenotypic variants caused by mutation in a gene already listed in the gene table SMCHD1 (item # 1.11 allelic to BAMS (OMIM #603457)) DAG1 (item # 2.37) GYG1 (item # 9.12) LDB3 (item # 10.25) TCAP (item # 10.26) BAG3 (item # 10.64 and 14.67) VCP (item # 14.61) 1 new gene for a previously identified locus SIGMAR1 (item #12.6, allelic to item # 12.54) 40 new key references ARTICLE IN PRESS Gene table of monogenic neuromuscular disorders (nuclear genome only) A computerized version of the table is freely accessible at http://www.musclegenetable.fr/ Shaded background indicates newly added items. DISEASE NAME Item Inheritance Locus or Chromosome Gene symbol Protein Key Other allelic disease(s) line disease and OMIM (mitochondrial references (group in this table) in this symbol and number proteins indicated group OMIM by symbol [M]) number GROUP 1. MUSCULAR DYSTROPHIES Duchenne muscular dystrophy; 1.1 XR DMD Xp21.2 DMD Dystrophin Monaco et al. (1986) Allelic to CMD3B (group 10) Becker muscular dystrophy 310200 300377 Burghes et al. (1987) BMD Koenig et al. (1987, 1988) 300376 Hoffman et al. (1987, 1988) Emery-Dreifuss muscular 1.2 XR EDMD1 Xq28 EMD Emerin Hodgson et al. (1986) dystrophy, X-linked, type 1 310300 300384 Romeo et al. (1988) Bione et al. (1994, 1995) Klauck et al. (1995) Nigro et al. (1995) Emery-Dreifuss muscular 1.3 XR EDMD6 Xq27.2 FHL1 Four and a half Gueneau et al. (2009) Allelic to RSS (2), XPMA (5), dystrophy, X-linked, type 2 300696 300163 LIM domain 1 XPMD (5), reducing body myopathy (group 5) Emery-Dreifuss muscular 1.4 AD EDMD2 1q21.2 LMNA Lamin A/C Bonne et al. (1999) Allelic to EDMD3 (group 1), dystrophy, autosomal dominant 181350 150330 Worman and Bonne (2007) LGMD1B (group1), CMD1A (group 10), CMT2B1 (group 14), [+ several other phenotypes not in this table: FPLD2/151660, HGPS/176670, restrictive dermopathy/275210, MADA/248370] Emery-Dreifuss muscular 1.5 AR EDMD3 1q21.2 LMNA Lamin A/C Raffaele di Barletta et al. Allelic to EDMD2 (group 1), dystrophy, autosomal recessive 181350 150330 (2000) Worman and Bonne LGMD1B (group 1), CMD1A (2007) (group 10), CMT2B1 (group 14), [+ several other phenotypes not in this table FPLD2/151660, HGPS/176670, restrictive dermopathy/275210, not in this table] Nesprin-1 related muscular 1.6 AD EDMD4 6q25 SYNE1 Spectrin repeat Zhang et al. (2007) Allelic to dilated dystrophy 612998 608441 containing, nuclear cardiomyopathy with nesprin-1 envelope 1 defect (group 10), SCAR8 (nesprin-1) (group 13), AMC with nesprin-1 defect (group 16) Nesprin-2 related muscular 1.7 AD EDMD5 14q23 SYNE2 Spectrin repeat Zhang et al. (2007) dystrophy 612999 608442
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