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Nuclear Genome Available online at www.sciencedirect.com ScienceDirect Neuromuscular Disorders 26 (2016) 895–929 www.elsevier.com/locate/nmd The 2017 version of the gene table of monogenic neuromuscular disorders (nuclear genome) Jean-Claude Kaplana, Dalil Hamrounb, François Rivierc, Gisèle Bonned,* aInstitut Cochin, Université Paris Descartes, 27 Rue du Faubourg Saint Jacques, 75014 Paris, France bCHRU de Montpellier, Direction de la Recherche et de l’Innovation, Hôpital La Colombière, 39 Avenue Charles Flahault, 34295 Montpellier, France cNeuropédiatrie & CR Maladies Neuromusculaires, CHU de Montpellier. U1046 INSERM, UMR9214 CNRS, Université de Montpellier, France dSorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Centre de Recherche en Myologie, Institut de Myologie, G.H. Pitié-Salpêtrière, Paris, France General features In each group every entry corresponds to a clinical entity and has an item number.2 A given gene may be involved in This table is published annually in the December issue. Its several different clinical entities (phenotypic heterogeneity such purpose is to provide the reader of Neuromuscular Disorders as in LMNA defects) and conversely a given clinical entity may with an updated list of monogenic muscle diseases due to a be produced by a defect in several possible alternative genes primary defect residing in the nuclear genome. It comprises (genotypic heterogeneity such as in CMT). In some diseases diseases in which the causative gene is known or at least both kinds of heterogeneity may occur. As a consequence a localized on a chromosome, if not yet identified. Diseases for gene or a disease may be cited in several places of the table. which the locus has not been mapped or which are due to defects involving mitochondrial genes are not included.1 The two versions of the gene table3 As in past years the diseases are classified into 16 groups: The annual printed version below is abridged and does not 1. Muscular dystrophies; contain the Arrythmogenic Hereditary Cardiomyopathies 2. Congenital muscular dystrophies; (Group 10-B), Hereditary Ataxias (Group 13), and Hereditary 3. Congenital myopathies; Paraplegias (Group 15). The list of references is restricted to 4. Distal myopathies; new key references corresponding to the items added or 5. Other myopathies; implemented since the preceding year. 6. Myotonic syndromes; The full online version contains the complete data of the 7. Ion channel muscle diseases; 16 groups and the cumulative list of key references since 1991. 8. Malignant hyperthermias; It is freely accessible at http://www.musclegenetable.fr.Itis 9. Metabolic myopathies; designed to cope with the complexity described above. In this 10. Hereditary cardiomyopathies, subdivided into version the data are cross-referenced and linked to PubMed 10A (non-arrhythmogenic) and and to major databases related to molecular medicine (Leiden 10B (arrhythmogenic); Muscular Dystrophy, OMIM, NCBI, Genatlas, Orphanet, 11. Congenital myasthenic syndromes; GeneCards). It contains several query tools allowing one to 12. Motor neurone diseases; perform a variety of interrogations. This computerized version 13. Hereditary ataxias; of the table is now surpassing the printed version which cannot 14. Hereditary motor and sensory neuropathies; accommodate the ever increasing volume and complexity of 15. Hereditary paraplegias; data. The statistics tool instantly provides the latest list of 16. Other neuromuscular disorders. 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, CNRS FRE3617, 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 3 The history and development of both versions of the table are presented in and 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.) http://dx.doi.org/10.1016/j.nmd.2016.11.010 896 J.-C. Kaplan et al./Neuromuscular Disorders 26 (2016) 895–929 Overview of the new data in the 2017 printed version of Citation of the gene table the gene table (pages 895 to 929 of this issue) - Printed version: Kaplan JC, Hamroun D, F Rivier, G Bonne. There are 44 new items, marked by background shading. The 2017 version of the gene table of neuromuscular Altogether they comprise 36 additional genes and 3 additional disorders. Neuromuscul Disord. 26 (12), 895–929. phenotypic variants caused by a gene already listed in the - Online version: GeneTable of Neuromuscular Disorders: 2016 version (see box). The new key references of the printed http://www.musclegenetable.fr version of the table are listed in pages 927–929 in this issue. Contact New in the 2017 printed version of the gene table Users of the gene table are kindly requested to send any comments on the printed and/or the online version to 35 genes added: [email protected] ACAD9 (item #9.23) Acknowledgements ADSSL1 (item #4.18) ASCC1 (item #12.36) We acknowledge the help of Myobase, a bibliographic ATL3 (item #14.79) alert system of the AFM (Asscociation Française contre les BVES (item #1.44) Myopathies), URL: http://www.myobase.org/ COL12A1 (item #2.9, item #2.10, and item #2.11) We are extremely appreciative of the invaluable assistance COL13A1 (item #11.30) provided by Jane Miller at all stages of elaboration and editing CTNNA3 (item #10.90) of this table. CCT5 (item #14.100) DAG1 (item #1.36) DCAF8 (item #14.96) DGAT2 (item #14.66) DST (item #14.87) FAM111B (item #16.33) FAM134B (item #14.81) GOLGA2 (item #2.46) HARS (item #14.60) HNRPA1 (item #3.35 and item #12.57) KY (item #5.11) LRP4 (item #11.28) MME (item #14.58) MORC2 (item #14.62) MYO9A (item #11.32) NAGLU (item #14.59) NTRK1 (item #14.85) PNKP (item #14.66) PRDM12 (item #14.89) PYRODX1 (item #5.28) RBM7 (item #12.24) SCN11A (item #14.88) SCN9A (item #14.83) SLC25A42 (item #16.24) SLC5A7 (item #11.31) SNAP25 (item #11.29) TOR1AIP1 (item #1.45) TRIP4 (item #2.47 and item #12.35) 3 additional phenotypic variants caused by mutation in a gene already listed in the gene table GMPPB (item #11.33) SPG11 (item #12.43 and #14.61) 1 new gene for a previously identified locus CHCHD10 (item #12.33) 46 new key references Download English Version: https://daneshyari.com/en/article/5632214 Download Persian Version: https://daneshyari.com/article/5632214 Daneshyari.com.
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