Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Esposito, Teresa ^a   Sampaolo, Simone ^b   Limongelli, Giuseppe ^b   Varone, Antonio ^c   Formicola, Daniela ^a,b   Diodato, Daria ^b   Farina, Olimpia ^b   Napolitano, Filomena ^a   Pacileo, Giuseppe ^b   Gianfrancesco, Fernando ^a   Di Iorio, Giuseppe ^b  

^a INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c SANTOBONO PAUSILIPON CHILDREN S HOSPITAL   (Italy)

Author keywords

Congenital type fiber disproportion; Integrin alpha 7 (ITGA7); Left ventricular noncompact cardiomyopathy; Myosin heavy chain 7B (MYH7B); Whole exome sequencing

Indexed keywords

ALPHA7 INTEGRIN; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 7B; UNCLASSIFIED DRUG;

ARTICLE; BASEMENT MEMBRANE; CHILD; CLINICAL ARTICLE; EXOME; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE SEGREGATION; HUMAN; MALE; MISSENSE MUTATION; MUSCLE CELL; MUSCLE TISSUE; MYOPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; SCHOOL CHILD; VENTRICULAR NONCOMPACTION;

ADOLESCENT; AMINO ACID SEQUENCE; ANTIGENS, CD; CARDIAC MYOSINS; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; HEART VENTRICLES; HUMANS; INTEGRIN ALPHA CHAINS; ITALY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOSIN HEAVY CHAINS; MYOTONIA CONGENITA; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84879123995     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-91     Document Type: Article

References (44)

1. Congenital fiber type disproportion-30 years on. Clarke NF, North KN, J Neuropathol Exp Neurol 2003 62 977 989 14575234 (Pubitemid 37229528)
2. Actin mutations are one cause of congenital fibre type disproportion. Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, Shimakawa S, Hagiwara T, Ouvrier R, Sparrow JC, Nishino I, North KN, Nonaka I, Ann Neurol 2004 56 689 694 10.1002/ana.20260 15468086 (Pubitemid 39540749)
3. SEPN1: Associated with congenital fiber-type disproportion and insulin resistance. Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN, Ann Neurol 2006 59 546 552 10.1002/ana.20761 16365872 (Pubitemid 43358076)
4. The pathogenesis of ACTA1-related congenital fiber type disproportion. Clarke NF, Ilkovski B, Cooper S, Valova VA, Robinson PJ, Nonaka I, Feng JJ, Marston S, North K, Ann Neurol 2007 61 552 561 10.1002/ana.21112 17387733 (Pubitemid 47068137)
5. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN, Ann Neurol 2008 63 329 337 10.1002/ana.21308 18300303 (Pubitemid 351499862)
6. TPM2 mutation. Brandis A, Aronica E, Goebel HH, Neuromuscul Disord 2008 18 1005 18952428
7. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH, Hum Mutat 2009 31 176 183
8. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN, Hum Mutat 2010 31 1544 E1550 10.1002/humu.21278 20583297
9. The failing heart. Towbin JA, Bowles NE, Nature 2002 415 227 233 10.1038/415227a 11805847 (Pubitemid 34059529)
10. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Chen R, Tsuji T, Ichida F, Bowles KR, Yu X, Watanabe S, Hirono K, Tsubata S, Hamamichi Y, Ohta J, Imai Y, Bowles NE, Miyawaki T, Towbin JA, Noncompaction study collaborators, Mol Genet Metab 2002 77 319 325 10.1016/S1096-7192(02)00195-6 12468278 (Pubitemid 36027139)
11. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, Dreyer WJ, Messina J, Li H, Bowles NE, Towbin JA, Circulation 2001 103 1256 1263 10.1161/01.CIR.103.9.1256 11238270 (Pubitemid 32221349)
12. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular noncompaction. 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, J Am Coll Cardiol 2003 42 2014 2027 10.1016/j.jacc.2003.10.021 14662268 (Pubitemid 37485581)
13. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Hermida-Prieto M, Monserrat L, Castro-Beiras A, Laredo R, Soler R, Peteiro J, Rodríguez E, Bouzas B, Alvarez N, Muñiz J, Crespo-Leiro M, Am J Cardiol 2004 94 50 54 10.1016/j.amjcard.2004.03.029 15219508 (Pubitemid 38813453)
14. Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. Budde BS, Binner P, Waldmüller S, Höhne W, Blankenfeldt W, Hassfeld S, Brömsen J, Dermintzoglou A, Wieczorek M, May E, Kirst E, Selignow C, Rackebrandt K, Müller M, Goody RS, Vosberg HP, Nürnberg P, Scheffold T, PLoS One 2007 2 12 1362 10.1371/journal.pone.0001362 18159245 (Pubitemid 351760760)
15. Mutations in sarcomere protein genes in left ventricular noncompaction. Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hürlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L, Circulation 2008 117 22 2893 2901 10.1161/CIRCULATIONAHA.107.746164 18506004 (Pubitemid 351787074)
16. Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Probst S, Oechslin E, Schuler P, Greutmann M, Boyé P, Knirsch W, Berger F, Thierfelder L, Jenni R, Klaassen S, Circ Cardiovasc Genet 2011 4 4 367 374 10.1161/CIRCGENETICS.110. 959270 21551322
17. Exome sequencing identifies the cause of a mendelian disorder. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ, Nat Genet 2010 42 30 36 10.1038/ng.499 19915526
18. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA, Heart 2001 86 6 666 671 10.1136/heart.86.6.666 11711464 (Pubitemid 33086886)
19. SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone. Gennari L, Gianfrancesco F, Di Stefano M, Rendina D, Merlotti D, Esposito T, Gallone S, Fusco P, Rainero I, Fenoglio P, Mancini M, Martini G, Bergui S, De Filippo G, Isaia G, Strazzullo P, Nuti R, Mossetti G, J Bone Miner Res 2010 25 1375 1384 10.1002/jbmr.31 20200946
20. A non synonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease. Gianfrancesco F, Rendina D, Di Stefano M, Mingione A, Esposito T, Merlotti D, Gallone S, Magliocca S, Goode A, Formicola D, Morello G, Layfield R, Frattini A, De Filippo G, Nuti R, Searle M, Strazzullo P, Isaia G, Mossetti G, Gennari L, J Bone Miner Res 2012 27 2 443 452 10.1002/jbmr.542 21987421
21. piR-015520 belongs to Piwi-associated RNAs regulates expression of the human melatonin receptor 1A gene. Esposito T, Magliocca S, Formicola D, Gianfrancesco F, PLoS One 2011 6 22727 10.1371/journal.pone.0022727 21818375
22. The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis. Esposito T, Rendina D, Aloia A, Formicola D, Magliocca S, De Filippo G, Muscariello R, Mossetti G, Gianfrancesco F, Strazzullo P, Nephrol Dial Transplant 2012 27 1 210 218 10.1093/ndt/gfr216 21652546
23. Digenic inheritance and Mendelian disease. Lupski JR, Nat Genet 2012 44 12 1291 1292 10.1038/ng.2479 23192179
24. Cardiac manifestations of congenital fiber-type disproportion myopathy. Banwell BL, Becker LE, Jay V, Taylor GP, Vajsar J, J Child Neurol 1999 14 83 87 10.1177/088307389901400205 10073429 (Pubitemid 29146618)
25. An adult case of congenital fiber type disproportion (CFTD) with cardiomyopathy. Fujita K, Nakano S, Yamamoto H, Ito H, Ito H, Goto Y, Kusaka H, Rinsho Shinkeigaku 2005 45 5 380 382 15960177 (Pubitemid 41184647)
26. A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. Okamoto N, Toribe Y, Nakajima T, Okinaga T, Kurosawa K, Nonaka I, Shimokawa O, Matsumoto N, J Hum Genet 2002 47 556 559 10.1007/s100380200085 12376748 (Pubitemid 35238974)
27. Left ventricular hypertrabeculation /noncompaction. Stollberger C, Finsterer J, J Am Soc Echocardiogr 2004 17 1 91 100 10.1016/S0894-7317(03)00514- 5 14712196 (Pubitemid 38064123)
28. Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Finsterer J, Pediatr Cardiol 2009 30 659 681 10.1007/s00246-008-9359-0 19184181
29. Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity. Weiss A, Schiaffino S, Leinwand LA, J Mol Biol 1999 290 1 61 75 10.1006/jmbi.1999.2865 10388558 (Pubitemid 29308576)
30. Organization of human and mouse skeletal myosin heavy chain gene clusters is highly conserved. Weiss A, McDonough D, Wertman B, Acakpo-Satchivi L, Montgomery K, Kucherlapati R, Leinwand L, Krauter K, Proc Natl Acad Sci USA 1999 96 6 2958 2963 10.1073/pnas.96.6.2958 10077619 (Pubitemid 29148826)
31. Developmental expression and cardiac transcriptional regulation of Myh7b, a third myosin heavy chain in the vertebrate heart. Warkman AS, Whitman SA, Miller MK, Garriock RJ, Schwach CM, Gregorio CC, Krieg PA, Cytoskeleton 2012 69 5 324 335 10.1002/cm.21029 22422726
32. The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. Hoedemaekers YM, Caliskan K, Michels M, Frohn-Mulder I, van der Smagt JJ, Phefferkorn JE, Wessels MW, ten Cate FJ, Sijbrands EJ, Dooijes D, Majoor-Krakauer DF, Circ Cardiovasc Genet 2010 3 3 232 239 10.1161/CIRCGENETICS.109.903898 20530761
33. Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations. Walsh R, Rutland C, Thomas R, Loughna S, Cardiology 2010 115 1 49 60 10.1159/000252808 19864899
34. Intrafamilial variability of noncompaction of the ventricular myocardium. Johnson MT, Zhang S, Gilkeson R, Ameduri R, Siwik E, Patel CR, Chebotarev O, Kenton AB, Bowles KR, Towbin JA, Robin NH, Brozovich F, Hoit BD, Am Heart J 2006 151 5 1012.e7 14 10.1016/j.ahj.2006.01.021
35. Isolated ventricular non-compaction of the myocardium in adults. Jenni R, Oechslin EN, van der Loo B, Heart 2007 93 1 11 15 10.1136/hrt.2005.082271 16670098 (Pubitemid 46094038)
36. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van Langen I, Tavazzi L, European Society of Cardiology Working Group on Myocardial and Pericardial Diseases, Eur Heart J 2010 31 22 2715 2726 10.1093/eurheartj/ehq271 20823110
37. Laminin-binding integrin alpha 7 beta 1: functional characterization and expression in normal and malignant melanocytes. Kramer RH, Vu MP, Cheng YF, Ramos DM, Timpl R, Waleh N, Cell Regul 1991 2 10 805 817 1839357
38. Alpha7 integrin mediates cell adhesion and migration on specific laminin isoforms. Yao CC, Ziober BL, Squillace RM, Kramer RH, J Biol Chem 1996 271 41 25598 25603 10.1074/jbc.271.41.25598 8810334 (Pubitemid 26337938)
39. H36-alpha 7 is a novel integrin alpha chain that is developmentally regulated during skeletal myogenesis. Song WK, Wang W, Foster RF, Bielser DA, Kaufman SJ, J Cell Biol 1992 117 3 643 657 10.1083/jcb.117.3.643 1315319
40. Laminin alters cell shape and stimulates motility and proliferation of murine skeletal myoblasts. Ocalan M, Goodman SL, Kühl U, Hauschka SD, von der Mark K, Dev Biol 1988 125 1 158 167 10.1016/0012-1606(88)90068-1 3334715 (Pubitemid 18021747)
41. The E8 subfragment of laminin promotes locomotion of myoblasts over extracellular matrix. Goodman SL, Risse G, von der Mark K, J Cell Biol 1989 109 2 799 809 10.1083/jcb.109.2.799 2503526 (Pubitemid 19197038)
42. Absence of integrin alpha 7 causes a novel form of muscular dystrophy. Mayer U, Saher G, Fässler R, Bornemann A, Echtermeyer F, von der Mark H, Miosge N, Pöschl E, von der Mark K, Nat Genet 1997 17 3 318 323 10.1038/ng1197-318 9354797 (Pubitemid 27475996)
43. Zebrafish integrin-linked kinase is required in skeletal muscles for strengthening the integrin-ECM adhesion complex. Postel R, Vakeel P, Topczewski J, Knöll R, Bakkers J, Dev Biol 2008 318 1 92 101 10.1016/j.ydbio.2008.03. 024 18436206
44. Mutations in the integrin alpha7 gene cause congenital myopathy. Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, Yokochi K, Ziober BL, Kramer RH, Kaufman SJ, Ozawa E, Goto Y, Nonaka I, Tsukahara T, Wang JZ, Hoffman EP, Arahata K, Nat Genet 1998 19 1 94 97 10.1038/ng0598-94 9590299 (Pubitemid 28242033)