Gene table of monogenic neuromuscular disorders (nuclear genome only) Vol. 18 No. 1, January 2008 (A computerized version of the table is accessible at http://www.musclegenetable.org and http://194.167.35.195/) Disease name Item line group in this table Inheri- tance a Locus symbol MIM group b Chromo- some c Gene symbol and MIM group d Protein e Key references Other allelic disease phenotype(s) (group in this table) 1. MUSCULAR DYSTROPHIES Duchenne muscular dystrophy; Becker muscular dystrophy 1.1 XR DMD 310200 BMD 300376 Xp21.2 DMD 300377 dystrophin Monaco et al. (1986) Burghes et al. (1987) Koenig et al. (1987, 1988) Hoffman et al. (1987, 1988) allelic to CMD3B (group 10) Emery-Dreifuss muscular dystrophy, X-linked 1.2 XR EDMD 310300 Xq28 EMD 300384 emerin Hodgson et al. (1986) Romeo et al. (1988) Bione et al. (1994, 1995) Klauck et al. (1995) Nigro et al. (1995) Emery-Dreifuss muscular dystrophy, autosomal dominant 1.3 AD EDMD2 181350 1q21.2 LMNA 150330 lamin A/C Bonne et al. (1999) Worman and Bonne (2007) allelic to EDMD3 (group 1), LGMD1B (group 1), 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 dystrophy, autosomal recessive 1.4 AR EDMD3 604929 1q21.2 LMNA 150330 lamin A/C Raffaele di Barletta et al. (2000) Worman and Bonne (2007) allelic to EDMD2 (group 1), LGMD1B (group 1), CMD1A (group 10) CMT2B1 (group 14), [+ several other phenotypes not in this table: FPLD2/ 151660, HGPS/176670, restrictive dermopathy/275210, not in this table] Emery-Dreifuss with nesprin-1 defect 1.5 AD 6q25 SYNE1 608441 spectrin repeat containing, nuclear envelope 1 (nesprin-1) Zhang et al. (2007) Allelic to SCAR8 (group 13) Emery-Dreifuss with nesprin-2 defect 1.6 AD 4q23 SYNE2 608442 spectrin repeat containing, nuclear envelope 2 (nesprin-2) Zhang et al. (2007) (continued on next page ) www.elsevier.com/locate/nmd Neuromuscular Disorders 18 (2008) 101–129 doi:10.1016/j.nmd.2007.12.001
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Gene table of monogenic neuromuscular disorders(nuclear genome only)Vol. 18 No. 1, January 2008
(A computerized version of the table is accessible at http://www.musclegenetable.org and http://194.167.35.195/)
Diseasename
Item linegroup inthis table
Inheri-tancea
LocussymbolMIMgroupb
Chromo-somec
Gene
symbol
and MIM
groupd
Proteine Key references Other allelic diseasephenotype(s)(group in this table)
1. MUSCULAR DYSTROPHIES
Duchenne muscular
dystrophy; Becker
muscular dystrophy
1.1 XR DMD
310200
BMD
300376
Xp21.2 DMD
300377
dystrophin Monaco et al. (1986)
Burghes et al. (1987)
Koenig et al. (1987, 1988)
Hoffman et al. (1987, 1988)
allelic to CMD3B
(group 10)
Emery-Dreifuss muscular
dystrophy,
X-linked
1.2 XR EDMD
310300
Xq28 EMD
300384
emerin Hodgson et al. (1986)
Romeo et al. (1988)
Bione et al. (1994, 1995)
Klauck et al. (1995)
Nigro et al. (1995)
Emery-Dreifuss muscular
dystrophy,
autosomal dominant
1.3 AD EDMD2
181350
1q21.2 LMNA
150330
lamin A/C Bonne et al. (1999)
Worman and Bonne (2007)
allelic to
EDMD3 (group 1),
LGMD1B (group 1),
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
dystrophy,
autosomal recessive
1.4 AR EDMD3
604929
1q21.2 LMNA
150330
lamin A/C Raffaele di Barletta
et al. (2000)
Worman and Bonne
(2007)
allelic to
EDMD2 (group 1),
LGMD1B (group 1),
CMD1A (group 10)
CMT2B1 (group 14),
[+ several other phenotypes
not in this table: FPLD2/
151660,
HGPS/176670,
restrictive
dermopathy/275210,
not in this table]
Emery-Dreifuss with
nesprin-1 defect
1.5 AD 6q25 SYNE1
608441
spectrin repeat
containing,
nuclear envelope
1 (nesprin-1)
Zhang et al. (2007) Allelic to SCAR8
(group 13)
Emery-Dreifuss with
nesprin-2 defect
1.6 AD 4q23 SYNE2
608442
spectrin repeat
containing,
nuclear envelope
2 (nesprin-2)
Zhang et al. (2007)
(continued on next page )
www.elsevier.com/locate/nmd
Neuromuscular Disorders 18 (2008) 101–129
doi:10.1016/j.nmd.2007.12.001
Facio-scapulo-humeral
muscular dystrophy
1.7 AD FSHD
158900
4q35 ? Wijmenga et al. (1990,
1991, 1992, 1993)
Upadhyaya et al. (1990, 1992)
Wright et al. (1993)
van Deutekom et al.
(1993)
Gabellini et al. (2002), Van
der Maarel et al. (2005),
Gabellini et al. (2006),
Petrov et al. (2006)
Limb girdle muscular dystrophies, dominant
• LGMD 1A 1.8 AD LGMD1A
159000
5q31 MYOT
609200
myotilin (titin
immunoglobulin
domain protein)
Speer et al. (1992)
Hauser et al. (2000)
allelic to distal myotilino-
pathy (group 4), MFM
(group 5) and spheroid
body myopathy (group 5)
• LGMD 1B 1.9 AD LGMD1B
159001
1q11-q21 LMNA
150330
lamin A/C van der Kooi et al. (1997)
Muchir et al. (2000)
Worman and Bonne (2007)
allelic to
EDMD2 (group 1),
EDMD3 (group 1);
LGMD1B (group 1),
CMD1A (group 10)
CMT2B1 (group 14),
[+ several other phenotypes
FPLD2/151660, HGPS/
176670, restrictive
dermopathy/275210, not in
this table]
• LGMD 1C 1.10 AD LGMD1C
607780
3p25 CAV3
601253
caveolin-3 Minetti et al. (1998)
McNally et al. (1998)
allelic to distal myopathy
(group 4); hyper CKemia
(group 5) and RMD2
(group 6), CMH (group 10),
LQT9 (group 10)
• LGMD 1D 1.11 AD LGMD1D
603511
7q ? ? Speer et al. (1999)
• LGMD 1E 1.12 AD LGMD1E
602067
6q23 ? ? Messina et al. (1997) synonymous to CMD1F
(group 10)
• LGMD 1F 1.13 AD LGMD1F
608423
7q32 ? ? Palenzuela et al. (2003)
• LGMD 1G 1.14 AD LGMD1G
609115
4q21 ? ? Starling et al. (2005)
Limb girdle muscular dystrophies, recessive
• LGMD2A 1.15 AR LGMD2A
253600
15q15.1 CAPN3
114240
calpain -3 Beckmann et al. (1991)
Young et al. (1992)
Richard et al. (1995,
1997)
• LGMD2B 1.16 AR LGMD2B
253601
2p13 DYSF
603009
dysferlin Bashir et al. (1994)
Bashir et al. (1998)
Liu et al. (1998)
allelic to MM (group 4)
• LGMD2C 1.17 AR LGMD2C
253700
13q12 SGCG
608896
c-sarcoglycan Ben Othmane et al. (1992)
Azibi et al. (1993)
Noguchi et al. (1995)
McNally et al. (1996)
Piccolo et al. (1996)
• LGMD2D 1.18 AR LGMD2D
608099
17q12-q21.33 SGCA
600119
a-sarcoglycan Roberds et al. (1994)
Piccolo et al. (1995)
Passos-Bueno et al. (1995)
Ljunggren et al. (1995)
Carrie et al. (1997)
• LGMD2E 1.19 AR LGMD2E
604286
4q12 SGCB
600900
b-sarcoglycan Lim et al. (1995)
Bonnemann et al. (1995)
Bonnemann et al. (1996)
Diseasename
Item linegroup inthis table
Inheri-tancea
LocussymbolMIMgroupb
Chromo-somec
Gene
symbol
and MIM
groupd
Proteine Key references Other allelic diseasephenotype(s)(group in this table)
Notes to Gene Tablea Inheritance: XR: X-linked recessive; XD: X-linked dominant; AD: autosomal dominant; AR: autosomal recessive.b Locus: phenotype symbol and MIM# number in the online version: OMIM (Online Mendelian Inheritance in Man), accessible at http://
www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM, of V.A. McKusick, Mendelian Inheritance in Man. Catalogs of Autosomal Dominant,Autosomal Recessive and X-linked Phenotypes. 11th Edn. Baltimore: Johns Hopkins University Press, 1994.
c Chromosome: assignment of the morbid locus (or gene when known).d Gene: Official acronym elaborated by the HUGO Gene Nomenclature Committee (HGNC) (http://www.gene.ucl.ac.uk/nomenclature) indicate that
the gene corresponding to the locus has not yet been identified.e Protein: official name approved by HGNC (commonly used name also given), or ? when the gene is still unknown.
References added since the last printed version of the gene table (January 2007 issue, vol 17, no 1) organized by disease group.
The complete list of references can be consulted on the online version (http://www.musclegenetable.org and http://194.167.35.195/)
Diseasename
Item linegroup inthis table
Inheri-tancea
LocussymbolMIMgroupb
Chromo-somec
Gene
symbol
and MIM
groupd
Proteine Key references Other allelic diseasephenotype(s)(group in this table)
Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, CassandriniD, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C,Bruno C. POMT2 gene mutation in limb-girdle muscular dystrophywith inflammatory changes. Biochem Biophys Res Commun2007;363:1033–7.
D’Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M,Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM,Bertini E. Expanding the clinical spectrum of POMT1 phenotype.Neurology 2006;66:1564–7; discussion 1461.
Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I,Tetreault M, Loisel L, Bouchard JP, Brais B. A novel autosomalrecessive limb-girdle muscular dystrophy with quadriceps atrophymaps to 11p13-p12. Brain 2007;130:368–80.
Worman HJ, Bonne G. ‘‘Laminopathies’’: a wide spectrum of humandiseases. Exp Cell Res 2007;313:2121–33.
Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A,Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA,Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, RobertsRG, Wehnert M, Shanahan CM. Nesprin-1 and -2 are involved in thepathogenesis of Emery-Dreifuss Muscular Dystrophy and are critical fornuclear envelope integrity. Hum Mol Genet 2007, 16, 2816–33.
Group 3: Congenital myopathies
Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM,Mukhtar MM, Urtizberea JA, Labeit S, Guicheney P, Leturcq F, GautelM, Fardeau M, Campbell KP, Richard I, Estournet B, Ferreiro A. C-terminal titin deletions cause a novel early-onset myopathy with fatalcardiomyopathy. Ann Neurol 2007;61:340–51.
Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C,Iwarsson E, Kingston H, Garnier JM, Biancalana V, Oldfors A,Mandel JL, Laporte J. Mutations in amphiphysin 2 (BIN1) disruptinteraction with dynamin 2 and cause autosomal recessive centronu-clear myopathy. Nat Genet 2007;39:1134–39.
Sato I, Wu S, Ibarra MC, Hayashi YK, Fujita H, Tojo M, Oh SJ, Nonaka I,Noguchi S, Nishino I. Congenital neuromuscular disease with uniformtype 1 fiber and RYR1 mutation. Neurology 2007 (in press).
Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG,Oldfors A. Myosin storage myopathy associated with a heterozygousmissense mutation in MYH7. Ann Neurol 2003;54:494–500.
Tajsharghi H, Oldfors A, Macleod DP, Swash M. Homozygous mutationin MYH7 in myosin storage myopathy and cardiomyopathy. Neurol-ogy 2007a; 68:962.
Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A. Congenital MyopathyWith Nemaline Rods and Cap Structures Caused by a Mutation in thebeta-Tropomyosin Gene (TPM2). Arch Neurol 2007b;64:1334–8.
Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A. Distalarthrogryposis and muscle weakness associated with a beta-tropomy-osin mutation. Neurology 2007c;68:772–5.
Group 4: Distal myopathies
Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V,Angelini C. Molecular and muscle pathology in a series of caveolin-opathy patients. Hum Mutat 2005;25:82–9.
Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G,Eymard B, Richard I, Selcen D, Engel A, Carpen O, Udd B.Zaspopathy in a large classic late-onset distal myopathy family. Brain2007;130:1477–84.
Roos A, Sendrek J, Garvey S, Tournev I, Stendel C, Urtizberea A,Guergueltcheva G, Mihailova V, Feit H, Tramonte J, Hedera P, WeisJ, Beckmann J, Seboun E, hauser M, Jackson C. Autosomal dominant
distal myopathy associated with a recurrent missense mutation in thegene encoding the nuclear matrix component, matrin 3. 2007 (in press).
Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y,Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K,Nonaka I, Arahata K, Itoyama Y. Mutation in the caveolin-3 genecauses a peculiar form of distal myopathy. Neurology 2002;58:323–5.
Wallgren-Pettersson C, Lehtokari VL, Kalimo H, Paetau A, Nuutinen E,Hackman P, Sewry C, Pelin K, Udd B. Distal myopathy caused byhomozygous missense mutations in the nebulin gene. Brain2007;130:1465–76.
Group 9: Metabolic myopathies
Fischer J, Lefevre C, Morava E, Mussini JM, Laforet P, Negre-SalvayreA, Lathrop M, Salvayre R. The gene encoding adipose triglyceridelipase (PNPLA2) is mutated in neutral lipid storage disease withmyopathy. Nat Genet 2007;39:28–30.
Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, JotorpP, Oldfors A, Holme E. Cardiomyopathy and exercise intolerance inmuscle glycogen storage disease 0. N Engl J Med 2007;357:1507–14.
Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M,Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N,Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, MorrisAA. ETFDH mutations as a major cause of riboflavin-responsivemultiple acyl-CoA dehydrogenation deficiency. Brain 2007;130:2045–54.
Group 10: Hereditary cardiomyopathies
Arimura T, Hayashi T, Terada H, Lee SY, Zhou Q, Takahashi M, Ueda K,Nouchi T, Hohda S, Shibutani M, Hirose M, Chen J, Park JE, YasunamiM, Hayashi H, Kimura A. A Cypher/ZASP mutation associated withdilated cardiomyopathy alters the binding affinity to protein kinase C. JBiol Chem 2004;279:6746–52.
Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ,Rhodes TH, George AL, Jr. Congenital sick sinus syndrome caused byrecessive mutations in the cardiac sodium channel gene (SCN5A). JClin Invest 2003;112:1019–28.
Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M,Menendez TM, Brugada J, Pollevick GD, Wolpert C, BurashnikovE, Matsuo K, Wu YS, Guerchicoff A, Bianchi F, Giustetto C,Schimpf R, Brugada P, Antzelevitch C. Sudden death associatedwith short-QT syndrome linked to mutations in HERG. Circulation2004;109:30–5.
Davis JS, Hassanzadeh S, Winitsky S, Lin H, Satorius C, Vemuri R,Aletras AH, Wen H, Epstein ND. The overall pattern of cardiaccontraction depends on a spatial gradient of myosin regulatory lightchain phosphorylation. Cell 2001;107:631–41.
Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V,Angelini C. Molecular and muscle pathology in a series of caveolin-opathy patients. Hum Mutat 2005;25:82–9.
Gudbjartsson DF, Arnar DO, Helgadottir A, Gretarsdottir S, Holm H,Sigurdsson A, Jonasdottir A, Baker A, Thorleifsson G, KristjanssonK, Palsson A, Blondal T, Sulem P, Backman VM, Hardarson GA,Palsdottir E, Helgason A, Sigurjonsdottir R, Sverrisson JT, KostulasK, Ng MC, Baum L, So WY, Wong KS, Chan JC, Furie KL,Greenberg SM, Sale M, Kelly P, MacRae CA, Smith EE, Rosand J,Hillert J, Ma RC, Ellinor PT, Thorgeirsson G, Gulcher JR, Kong A,Thorsteinsdottir U, Stefansson K. Variants conferring risk of atrialfibrillation on chromosome 4q25. Nature 2007;448:353–7.
Hayashi T, Arimura T, Ueda K, Shibata H, Hohda S, Takahashi M, HoriH, Koga Y, Oka N, Imaizumi T, Yasunami M, Kimura A.Identification and functional analysis of a caveolin-3 mutation
associated with familial hypertrophic cardiomyopathy. Biochem Bio-phys Res Commun 2004;313:178–84.
Knoll R, Postel R, Wang J, Kratzner R, Hennecke G, Vacaru AM, Vakeel P,Schubert C, Murthy K, Rana BK, Kube D, Knoll G, Schafer K, HayashiT, Holm T, Kimura A, Schork N, Toliat MR, Nurnberg P, SchultheissH-P, Schaper W, Schaper J, Bos E, Hertog JD, van Eeden FJM, PetersPJ, Hasenfuss G, Chien KR, Bakkers J. Laminin-{alpha}4 and Integrin-Linked Kinase Mutations Cause Human Cardiomyopathy Via Simul-taneous Defects in Cardiomyocytes and Endothelial Cells. Circulation2007;116:515–525.
Kyndt F, Schott JJ, Trochu JN, Baranger F, Herbert O, Scott V,Fressinaud E, David A, Moisan JP, Bouhour JB, Le Marec H,Benichou B. Mapping of X-linked myxomatous valvular dystrophy tochromosome Xq28. Am J Hum Genet 1998;62:627–32.
Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F,Toquet C, Roy E, McGregor L, Lynch SA, Newbury-Ecob R, Tran V,Young I, Trochu JN, Le Marec H, Schott JJ. Mutations in the geneencoding filamin A as a cause for familial cardiac valvular dystrophy.Circulation 2007;115:40–9.
Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O,Levy-Nissenbaum E, Khoury A, Lorber A, Goldman B, LancetD, Eldar M. A missense mutation in a highly conserved regionof CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin familiesfrom Israel. Am J Hum Genet 2001;69:1378–84.
Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B,Donarum EA, Marino M, Tiso N, Viitasalo M, Toivonen L, StephanDA, Kontula K. Mutations of the cardiac ryanodine receptor (RyR2)gene in familial polymorphic ventricular tachycardia. Circulation2001;103:485–90.
Li D, Tapscoft T, Gonzalez O, Burch PE, Quinones MA, Zoghbi WA,Hill R, Bachinski LL, Mann DL, Roberts R. Desmin mutationresponsible for idiopathic dilated cardiomyopathy. Circulation1999;100:461–4.
McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, AnastasakisA, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ.Identification of a deletion in plakoglobin in arrhythmogenic rightventricular cardiomyopathy with palmoplantar keratoderma andwoolly hair (Naxos disease). Lancet 2000;355:2119-24.
Milanesi R, Baruscotti M, Gnecchi-Ruscone T, DiFrancesco D. Familialsinus bradycardia associated with a mutation in the cardiac pacemakerchannel. N Engl J Med 2006;354:151–7.
Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R,Sorrentino V, Danieli GA. Mutations in the cardiac ryanodinereceptor gene (hRyR2) underlie catecholaminergic polymorphic ven-tricular tachycardia. Circulation 2001;103:196–200.
Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A,Napolitano C, Anumonwo J, di Barletta MR, Gudapakkam S, Bosi G,Stramba-Badiale M, Jalife J. A novel form of short QT syndrome(SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res2005;96:800–7.
Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y,Rubie C, Hordt M, Towbin JA, Borggrefe M, Assmann G, Qu X,Somberg JC, Breithardt G, Oberti C, Funke H. KCNE1 mutations causejervell and Lange-Nielsen syndrome. Nat Genet 1997;17:267–8.
Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH,Sanguinetti MC, Keating MT. Severe arrhythmia disorder caused bycardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A2005;102:8089–96; discussion 8086–8.
Swan H, Piippo K, Viitasalo M, Heikkila P, Paavonen T, Kainulainen K,Kere J, Keto P, Kontula K, Toivonen L. Arrhythmic disorder mapped tochromosome 1q42-q43 causes malignant polymorphic ventriculartachycardia in structurally normal hearts. J Am Coll Cardiol1999;34:2035–42.
Vasile VC, Will ML, Ommen SR, Edwards WD, Olson TM, AckermanMJ. Identification of a metavinculin missense mutation, R975W,
associated with both hypertrophic and dilated cardiomyopathy. MolGenet Metab 2006;87:169–74.
Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z,Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A,Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W,Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. Mutations inCypher/ZASP in patients with dilated cardiomyopathy and leftventricular non-compaction. J Am Coll Cardiol 2003;42:2014–27.
Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, TaylorEW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, TowbinJA. Mutant caveolin-3 induces persistent late sodium current andis associated with long-QT syndrome. Circulation 2006;114:2104–12.
Weiss R, Barmada MM, Nguyen T, Seibel JS, Cavlovich D, Kornblit CA,Angelilli A, Villanueva F, McNamara DM, London B. Clinical andmolecular heterogeneity in the Brugada syndrome: a novel gene locus onchromosome 3. Circulation 2002;105:707–13.
Xia M, Jin Q, Bendahhou S, He Y, Larroque MM, Chen Y, Zhou Q,Yang Y, Liu Y, Liu B, Zhu Q, Zhou Y, Lin J, Liang B, Li L, Dong X,Pan Z, Wang R, Wan H, Qiu W, Xu W, Eurlings P, Barhanin J. AKir2.1 gain-of-function mutation underlies familial atrial fibrillation.Biochem Biophys Res Commun 2005;332:1012–9.
Group 12: Spinal muscular atrophies
Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, El-Khateeb M, Kyriacou K, Kyriakides T, Al-Qudah AK,Middleton L. A novel form of distal hereditary motor neuronopathymaps to chromosome 9p21.1-p12. Ann Neurol 2000;48:877–84.
Gopinath S, Blair IP, Kennerson ML, Durnall JC, Nicholson GA. Anovel locus for distal motor neuron degeneration maps to chromosome7q34-q36. Hum Genet 2007;121:559–64.
Maystadt I, Zarhrate M, Leclair-Richard D, Estournet B, Barois A,Renault F, Routon MC, Durand MC, Lefebvre S, Munnich A,Verellen-Dumoulin C, Viollet L. A gene for an autosomal recessivelower motor neuron disease with childhood onset maps to 1p36.Neurology 2006;67:120–4.
Maystadt I, Rezsohazy R, Barkats M, Duque S, Vannuffel P, Remacle S,Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C. The nuclear factor kappaB-activator gene PLEKHG5 ismutated in a form of autosomal recessive lower motor neuron diseasewith childhood onset. Am J Hum Genet 2007;81:67–76.
Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E,Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH, Jr., Ludlow CL,Fischbeck KH. Mutant dynactin in motor neuron disease. Nat Genet2003;33:455–6.
Takata RI, Speck Martins CE, Passosbueno MR, Abe KT, NishimuraAL, Da Silva MD, Monteiro A, Jr., Lima MI, Kok F, Zatz M. A newlocus for recessive distal spinal muscular atrophy at Xq13.1-q21. JMed Genet 2004;41:224–9.
Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A,Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, BilletteDe Villemeur T, Bonneau D, Saugier-Veber P, Touzery-DeVillepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J,Munnich A. Refined genetic mapping of autosomal recessivechronic distal spinal muscular atrophy to chromosome 11q13.3and evidence of linkage disequilibrium in European families. Eur JHum Genet 2004;12:483–8.
Group 13: Hereditary ataxias
Bomont P, Watanabe M, Gershoni-Barush R, Shizuka M, Tanaka M,Sugano J, Guiraud-Chaumeil C, Koenig M. Homozygosity mappingof spinocerebellar ataxia with cerebellar atrophy and peripheral
neuropathy to 9q33-34, and with hearing impairment and opticatrophy to 6p21-23. Eur J Hum Genet 2000;8:986–90.
Breedveld GJ, van Wetten B, te Raa GD, Brusse E, van Swieten JC,Oostra BA, Maat-Kievit JA. A new locus for a childhood onset, slowlyprogressive autosomal recessive spinocerebellar ataxia maps to chro-mosome 11p15. J Med Genet 2004;41:858–66.
Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J,Megarbane A, Claustres M. Nonprogressive autosomal recessiveataxia maps to chromosome 9q34-9qter in a large consanguineousLebanese family. Ann Neurol 2001;50:250–3.
Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J,Megarbane A, Claustres M. A new autosomal recessive non-progres-sive congenital cerebellar ataxia associated with mental retardation,optic atrophy, and skin abnormalities (CAMOS) maps to chromosome15q24-q26 in a large consanguineous Lebanese Druze Family. Neur-ogenetics 2002;4:23–7.
Gros-Louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR,Bouchard JP, Rouleau GA. Mutations in SYNE1 lead to a newlydiscovered form of autosomal recessive cerebellar ataxia. Nat Genet2007;39:80–5.
Steckley JL, Ebers GC, Cader MZ, McLachlan RS. An autosomaldominant disorder with episodic ataxia, vertigo, and tinnitus. Neurol-ogy 2001;57:1499–502.
Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D,Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, LupskiJR. Mutation of TDP1, encoding a topoisomerase I-dependent DNAdamage repair enzyme, in spinocerebellar ataxia with axonal neurop-athy. Nat Genet 2002;32:267–72.
Tranebjaerg L, Teslovich TM, Jones M, Barmada MM, Fagerheim T, DahlA, Escolar DM, Trent JM, Gillanders EM, Stephan DA. Genome-widehomozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13. Hum Genet 2003;113:293–5.
van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S,Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X,Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I,Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, RussellJT, Cai H, Singleton AB. Deletion at ITPR1 underlies ataxia inmice and spinocerebellar ataxia 15 in humans. PLoS Genet2007;3:e108.
Group 14: Hereditary motor and sensory neuropathies
Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K,Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH.Mutation of FIG4 causes neurodegeneration in the pale tremor mouseand patients with CMT4J. Nature 2007;448:68–72.
Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, BoccaccioI, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D,Megarbane A, Haase G, Levy N. Mutations in FGD4 encoding theRho GDP/GTP exchange factor FRABIN cause autosomal recessiveCharcot-Marie-Tooth type 4H. Am J Hum Genet 2007;81:1–16.
Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A,Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y,Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Kruttgen A,Rudnik-Schoneborn S, Bergmann C, Suter U, Zerres K, TimmermanV, Relvas JB, Senderek J. Peripheral nerve demyelination caused by amutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet 2007;81:158–64.
Group 15: Hereditary paraplegias
Bouslam N, Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, DiGiandomenico S, Boland-Auge A, Santorelli FM, Durr A, Brice A,Yahyaoui M, Stevanin G. A novel locus for autosomal recessive spasticataxia on chromosome 17p. Hum Genet 2007;121:413–20.
Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, BertiniE, Boespflug-Tanguy O. Infantile-onset ascending hereditary spasticparalysis is associated with mutations in the alsin gene. Am J HumGenet 2002;71:518–27.
Hanein S, Durr A, Ribai P, Forlani S, Leutenegger AL, Nelson I, BabronMC, Elleuch N, Depienne C, Charon C, Brice A, Stevanin G. A novellocus for autosomal dominant "uncomplicated" hereditary spasticparaplegia maps to chromosome 8p21.1-q13.3. Hum Genet 2007;
Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA.A locus for autosomal dominant hereditary spastic ataxia, SAX1,maps to chromosome 12p13. Am J Hum Genet 2002;70:763–9.
Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, DenoraPS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, LossosA, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT,Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, BertiniE, Durr A, Brice A. Mutations in SPG11, encoding spatacsin, are amajor cause of spastic paraplegia with thin corpus callosum. NatGenet 2007a;39:366–72.
Stevanin G, Paternotte C, Coutinho P, Klebe S, Elleuch N, Loureiro JL,Denis E, Cruz VT, Durr A, Prud’homme JF, Weissenbach J, Brice A,Hazan J. A new locus for autosomal recessive spastic paraplegia(SPG32) on chromosome 14q12-q21. Neurology 2007b;68:1837–40.
Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D,Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Mutations in theKIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.Am J Hum Genet 2007;80:152–61.
Group 16: Other neuromuscular disorders
Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, deLonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, MunnichA, Rotig A. Mutation of RRM2B, encoding p53-controlled ribonu-cleotide reductase (p53R2), causes severe mitochondrial DNA deple-tion. Nat Genet 2007;39:776–80.
Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubin-stein G, Rahman S, Pagnamenta A, Eshhar S, Saada A. Deficiency ofthe ADP-forming succinyl-CoA synthase activity is associated withencephalomyopathy and mitochondrial DNA depletion. Am J HumGenet 2005;76:1081–6.
Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP,Keranen S, Peltonen L, Suomalainen A. Role of adenine nucleotidetranslocator 1 in mtDNA maintenance. Science 2000;289:782–5.
Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M. Amutation in the fast skeletal muscle troponin I gene causesmyopathy and distal arthrogryposis. Neurology 2006;67:597–601.
Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, TaylorRW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF.Mutant POLG2 disrupts DNA polymerase gamma subunits andcauses progressive external ophthalmoplegia. Am J Hum Genet2006;78:1026–34.
Ochala J, Li M, Tajsharghi H, Kimber E, Tulinius M, Oldfors A, LarssonL. Effects of a R133W beta-tropomyosin mutation on regulation ofmuscle contraction in single human muscle fibres. J Physiol2007;581:1283–92.
Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutantmitochondrial thymidine kinase in mitochondrial DNA depletionmyopathy. Nat Genet 2001;29:342–4.
Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG,Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Mutations in genesencoding fast-twitch contractile proteins cause distal arthrogryposissyndromes. Am J Hum Genet 2003a;72:681–90.
Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, BamshadM. Mutations in TNNT3 cause multiple congenital contractures: asecond locus for distal arthrogryposis type 2B. Am J Hum Genet2003b;73:212–4.
Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A. Distalarthrogryposis and muscle weakness associated with a beta-tropomy-osin mutation. Neurology 2007c;68:772–5.
Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, BamshadMJ. Mutations in embryonic myosin heavy chain (MYH3) causeFreeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet2006a;38:561–5.
Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H,Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ.
Trismus-pseudocamptodactyly syndrome is caused by recurrentmutation of MYH8. Am J Med Genet 2006b;140:2387–93.
Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C.Mutation of POLG is associated with progressive external ophthalmo-plegia characterized by mtDNA deletions. Nat Genet 2001;28:211–2.
Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC,Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, BassonCT. Mutation of perinatal myosin heavy chain associated with a Carneycomplex variant. N Engl J Med 2004;351:460–9.