Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy

Neuromuscular Disorders

Volumn 24, Issue 2, 2014, Pages 156-161

  Komlósi, Katalin ^a   Hadzsiev, Kinga ^a   Garbes, Lutz ^b   Martínez Carrera, Lilian A ^b   Pál, Endre ^a   Sigursson, Jóhann Haukur ^c   Magnusson, Olafur ^c   Melegh, Béla ^a   Wirth, Brunhilde ^b  

^a UNIVERSITY OF PÉCS   (Hungary)

^b UNIVERSITY OF COLOGNE   (Germany)

^c DECODE GENETICS   (Iceland)

Author keywords

Distal myopathy; Laing distal myopathy; MYH7; Myosinopathies; Whole exome sequencing

Indexed keywords

DISTAL MYOPATHY; LAING DISTAL MYOPATHY; MYH7; MYOSINOPATHIES; WHOLE EXOME SEQUENCING;

ADULT; BASE SEQUENCE; CARDIAC MYOSINS; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DISTAL MYOPATHIES; EXOME; FAMILY; FEMALE; HUMANS; HUNGARY; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; MYOSIN HEAVY CHAINS; PEDIGREE; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX;

EID: 84893659620     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.10.010     Document Type: Article

References (25)

1. Udd B. Distal myopathies. Myopathies and muscle diseases 2007, 215-242. Elsevier, Amsterdam. 3rd ed. D. Hilton-Jones, F. Mastaglia (Eds.).
2. Udd B. Distal myopathies-new genetic entities expand diagnostic challenge. Neuromuscul Disord 2012, 22:5-12.
3. Ohlsson M., Hedberg C., Brådvik B., et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain 2012, 135:1682-1694.
4. Laing N.G., Laing B.A., Meredith C., et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet 1995, 56:422-427.
5. Meredith C., Herrmann R., Parry C., et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet 2004, 75:703-708.
6. Tajsharghi H., Thornell L.E., Lindberg C., Lindvall B., Henriksson K.G., Oldfors A. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol 2003, 54:494-500.
7. Bohlega S., Abu-Amero S.N., Wakil S.M., et al. Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology 2004, 62:1518-1521.
8. Lamont P.J., Udd B., Mastaglia F.L., et al. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry 2006, 77:208-215.
9. Muelas N., Hackman P., Luque H., et al. MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. Neurology 2010, 75:732-741.
10. Muelas N., Hackman P., Luque H., et al. Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients. Clin Genet 2012, 81:491-494.
11. Cullup T., Lamont P.J., Cirak S., et al. Mutations in MYH7 cause multi-minicore disease (MmD) with variable cardiac involvement. Neuromuscul Disord 2012, 22:1096-1104.
12. Geisterfer-Lowrance A.A., Kass S., Tanigawa G., et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 1990, 62:999-1006.
13. Coto E., Reguero J.R., Palacín M., et al. Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy. J Mol Diagn 2012, 14:518-524.
14. Tajsharghi H., Oldfors A. Myosinopathies: pathology and mechanisms. Acta Neuropathol 2013, 125:3-18.
15. Clarke N.F., Amburgey K., Teenerc J., et al. A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscul Disord 2013, 23:432-436.
16. Dubourg O., Maisonobe T., Behin A., et al. A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. J Neurol 2011, 258:1157-1163.
17. Voit T., Kutz P., Leube B., et al. Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. Neuromuscul Disord 2001, 11:11-19.
18. Zimprich F., Djamshidian A., Hainfellner J.A., Budka H., Zeitlhofer J. An autosomal dominant early adult-onset distal muscular dystrophy. Muscle Nerve 2000, 23:1876-1879.
19. Mastaglia F.L., Phillips B.A., Cala L.A., et al. Early onset chromosome 14-linked distal myopathy (Laing). Neuromuscul Disord 2002, 12:350-357.
20. Tasca G., Ricci E., Penttilä S., et al. New phenotype and pathology features in MYH7-related distal myopathy. Neuromuscul Disord 2012, 22:640-647.
21. Harms M.B., Allred P., Gardner R., et al. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology 2010, 75:539-546.
22. Harms M.B., Ori-McKenney K.M., Scoto M., et al. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology 2012, 78:1714-1720.
23. Neveling K., Martinez-Carrera L.A., Hölker I., et al. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet 2013, 92:946-954.
24. Oates E.C., Rossor A.M., Hafezparast M., et al. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet 2013, 92:965-973.
25. Peeters K., Litvinenko I., Asselberg B., et al. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. Am J Hum Genet 2013, 92:955-964.