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The 2013 Version of the Gene Table of Neuromuscular Disorders (Nuclear Available online at www.sciencedirect.com Neuromuscular Disorders 22 (2012) 1108–1135 www.elsevier.com/locate/nmd The 2013 version of the gene table of monogenic neuromuscular disorders (nuclear genome) Jean-Claude Kaplan a,⇑, Dalil Hamroun b a Institut Cochin, Universite´ Paris Descartes, and Ho^pital Cochin-Maternite´s, 123, Bd Port-Royal, 75014 Paris, France b Centre Hospitalo-Universitaire de Montpellier, Ho^pital Arnaud de Villeneuve, 34000 Montpellier, France General features Column 2: Alphanumeric temporary annual code to des- ignate the item in each disease category, subject to changes This table is published annually in the December issue. Its in the subsequent printed versions if intercalations/dele- purpose is to provide the reader of Neuromuscular Disorders tions are needed. with an updated list of monogenic muscle diseases due to a Column 3: Mode of inheritance (AD: autosomal domi- primary defect residing in the nuclear genome. It comprises nant; AR: autosomal recessive; XR: X-linked recessive). diseases in which the causative gene is known, or at least Column 4: Generally accepted locus symbol, with corre- localized on a chromosome, if not yet identified. Diseases sponding OMIM2 phenotype number. for which the locus has not been mapped or which are due Column 5: Chromosomal localization of the locus. to defects involving mitochondrial genes are not included.1 Column 6: Gene symbol, approved by the HUGO Gene Nomenclature Committee (HGNC)3 followed by the corre- As in past years the diseases are classified into 16 sponding OMIM gene number. groups: Column 7: Protein name (most of the time approved by 1. Muscular dystrophies; 2. Congenital muscular dystro- the HGNC). phies; 3. Congenital myopathies; 4. Distal myopathies; 5. Other Column 8: Key references (in general limited to first myopathies; 6. Myotonic syndromes; 7. Ion channel muscle dis- locus chromosomal assignment; first identification of the eases; 8. Malignant hyperthermias; 9. Metabolic myopathies; gene; major contribution in the gene pathology). 10. Hereditary cardiomyopathies, subdivided into 10-A (non- Column 9: Other allelic disease phenotype(s) arrhythmogenic) and 10-B (arrhythmogenic); 11. Congenital myasthenic syndromes; 12. Motor neurone diseases; 13. Development of the gene table Hereditary ataxias; 14. Hereditary motor and sensory neuropathies; 15. Hereditary paraplegias; 16. Other Since its creation in the first issue of this journal (1991), neuromuscular disorders. the table has exploded in size and in complexity, essentially due to genetic and phenotypic heterogeneity. In addition In each group every entry corresponds to a given clinical the lack of congruence between clinical-based and entity with nine descriptive features: molecular-based classifications has dismantled the classical nosology, notably blurring the limits of the field of Column 1: Name of disease (where there are several neuromuscular disorders. This situation induced us in synonymous designations the most commonly used by clin- 2005 to start, in parallel to the rigid annual printed version, icians is preferred). an online gene table database (http://www.musclegenetable. fr), where space is not limited and which is easier to man- *Corresponding author. age and consult (see below). E-mail address: [email protected] (J.-C. Kaplan) 1 For diseases caused by mitochondrial genome mutations see: 2 Online Mendelian Inheritance in Man, OMIMÒ. McKusick-Nathans MITOMAP A human mitochondrial genome database. A compendium Institute of Genetic Medicine, Johns Hopkins University (Baltimore), MD of polymorphisms and mutations of the human mitochondrial DNA World Wide Web URL: http://omim.org/ http://www.mitomap.org/MITOMAP 3 URL: http://www.genenames.org/ doi:10.1016/j.nmd.2011.10.008 Gene table / Neuromuscular Disorders 22 (2012) 1108–1135 1109 Updating the table: linked to PubMed and to major databases related to mole- cular medicine (Leiden Muscular Dystrophy, OMIM, The material eligible for incorporation in the table con- NCBI, Genatlas, Orphanet). It contains several query tools sists of (i) new morbid genes primarily involved in the deter- allowing one to perform a variety of interrogations. This mination of a neuromuscular disease; (ii) new phenotypes computerized version of the table is now surpassing the related to an identified gene; (iii) new mapped morbid loci printed version which cannot accommodate the ever- still awaiting gene identification. Only key references are increasing volume and complexity of data. given. They comprise publications reporting the first map- ping and/or identification of a morbid gene. Further reports Recent upgrading of the online version of the gene table of additional new mutations are not considered. To save space only new key references added since the last edition Editing: It is now possible to export any displayed list are given at the end of the table, arranged by disease group. of data in Excel format. The alphanumeric temporary item number is indicated to Mitochondrial proteins: these are now indexed and facilitate the retrieval of the corresponding material in the labelled [M]. table. The last printed cumulative alphabetical list compris- Links: To the GeneCardsÒ database6; links to Orpha- ing all key references published from 1991 to 2007 is in the net7 (under construction at the time of going to press) gene table published in January 2007 issue (Vol 17, No.1, Tools: The search function is extended to any 81–102). The complete list of current references is available word included in the following categories: genes and on the online gene table (see below). For the retrieval and col- related diseases; proteins; references lection of relevant published data, we acknowledge the Statistics: A button automatically provides the latest invaluable help of Myobase4, a bibliographic alert system list of genes, proteins, phenotypes and bibliographic refer- of the AFM (Association Francßaise contre les Myopathies). ences in the table. Each list can be displayed and exported. The revision and updating of this version was done under the supervision of the following experts: Mathieu Anheim, Contents of the online version of the gene table Kate Bushby, Valerie Delague, Salvatore Di Mauro, Andy Engel, Ana Ferreiro, Michela Guglieri, Pascale Guicheney, As of 29 October 2012 the online Gene table contained: Nigel Laing, Judith Melki, Francesco Muntoni, Ichizo 681 disease phenotypes Nishino, Anders Oldfors, Louis Pta´cek, Elizabeth Stevens, 321 different genes Charles Thornton, Haluk Topaloglu and Bjarne Udd. 321 different proteins, of which 25 are As started in the 2009 edition, to save space, some items mitochondrial considered to be "less neuromuscular" have been removed 93 mapped loci awaiting gene identification from the printed version, but they are still maintained 892 references (all linked to PubMed) and implemented in the online version. This involves the arrythmogenic syndromes in the group of Hereditary Altogether these figures reflect the redundancy of the Cardiomyopathies (Group 10-B), and all the items of table due to (i) phenotypic convergence, ie several possible Hereditary Ataxias (Group 13), and Hereditary alternative genes for a given disease phenotype, such as Paraplegias (Group 15). in CMT; (ii) phenotypic divergence, ie several different dis- We are extremely appreciative of the invaluable help ease phenotypes generated by defects affecting the same provided by Jane Miller at all stages of elaboration and gene, such as LMNA. editing of this table. Citation of the gene table The online gene table - Printed version: Kaplan JC and Hamroun D The 2013 The full-length version of the gene table version is freely version of the gene table of neuromuscular disorders. available online at the following URL address: http:// Neuromuscul Disord. 22 (12), 1108–1135. www.musclegenetable.fr. In addition to the items available - Online version: GeneTable of Neuromuscular Disor- in the yearly printed version it contains Group 10-B ders: www.musclegenetable.fr (arrhythmogenic cardiomyopathies), Group 13 (hereditary 5 ataxias), and Group 15 (hereditary paraplegias). Contact: Started in 2005, it has been devised and developed by one of us (DH) using the 4th Dimension language from Users of the gene table are kindly requested to send any 4D (www.4D.com). It is fed by all the data selected and comments on the printed and/or the online version to classified by the curator of the NMD gene table (JCK). [email protected]. In the online version the data are cross-referenced and 6 The Human Gene Compendium maintained by the Weizmann 4 URL: http://www.myobase.org/ Institute (http://www.genecards.org/) 5 Containing 60, 61 and 54 items respectively (as of October 29 2012) 7 URL: http://www.orpha.net/consor/cgi-bin/index.php Available online at www.sciencedirect.com Neuromuscular Disorders 22 (2012) 1108–1135 www.elsevier.com/locate/nmd Gene table of monogenic neuromuscular disorders (nuclear genome only) Vol. 22 No. 12, December 2012 A computerized version of the table is freely accessible at http://www.musclegenetable.fr/ Shaded background indicates newly added items. DISEASE NAME Item line in Inheritance Locus or disease Chromosome Gene symbol Protein (mitochondrial Key references Other allelic disease(s) this group symbol and and OMIM proteins indicated by (group in this table) OMIM number number symbol [M]) GROUP 1. MUSCULAR DYSTROPHIES Duchenne muscular 1.1 XR DMD Xp21.2 DMD Dystrophin Monaco et al. (1986) Allelic to CMD3B (group dystrophy; Becker 310200 300377 Burghes et al. (1987) 10/A) muscular dystrophy BMD Koenig et al. (1987, 300376 1988) Hoffman et al. (1987, 1988) Emery-Dreifuss 1.2 XR EDMD1 Xq28 EMD Emerin Hodgson et al. (1986) muscular dystrophy, 310300 300384 Romeo et al. (1988) X-linked, type 1 Bione et al. (1994, 1995) Klauck et al. (1995) Nigro et al. (1995) Emery-Dreifuss 1.3 XR EDMD6 Xq27.2 FHL1 Four and a half Gueneau et al. (2009) Allelic to RSS (2), XPMA muscular dystrophy, 300696 300163 LIM domain 1 (5), XPMD (5) reducing X-linked, type 2 body myopathy (group 5) Emery-Dreifuss 1.4 AD EDMD2 1q21.2 LMNA Lamin A/C Bonne et al.
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