A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing

Neuromuscular Disorders

Volumn 25, Issue 8, 2015, Pages 617-624

  Dai, Yi ^a   Wei, Xiaoming ^b   Zhao, Yanhuan ^a   Ren, Haitao ^a   Lan, Zhangzhang ^c   Yang, Yun ^b   Chen, Lin ^a   Cui, Liying ^a,d  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b BGI Wuhan   (China)

^c BGI SHENZHEN   (China)

^d PEKING UNION MEDICAL COLLEGE   (China)

Author keywords

Chinese patients' features; Congenital myopathy; Muscular dystrophy; Prospective diagnostic study; Targeted next generation sequencing

Indexed keywords

ALPHA SARCOGLYCAN; CALPAIN 3; CONNECTIN; DESMIN; DYNAMIN II; DYSFERLIN; FILAMIN A; FUKUTIN RELATED PROTEIN; PLECTIN; RYANODINE RECEPTOR 1; VALOSIN CONTAINING PROTEIN;

ACTA1 GENE; ADOLESCENT; ADULT; ARTICLE; CAPN3 GENE; CHILD; CHINESE; CLINICAL EFFECTIVENESS; CLINICAL TRIAL; COL6A1 GENE; COL6A2 GENE; COL6A3 GENE; COST EFFECTIVENESS ANALYSIS; DES GENE; DIAGNOSTIC ACCURACY; DNM2 GENE; DYSF GENE; FEMALE; FKRP GENE; FLNC GENE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; LMNA GENE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYOPATHY; NEXT GENERATION SEQUENCING; PHENOTYPE; PLEC GENE; POMGNT1 GENE; POMT1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; RYR1 GENE; SCHOOL CHILD; SEGREGATION ANALYSIS; SGCA GENE; TTN GENE; VCP GENE; YOUNG ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DNA MICROARRAY; GENETICS; MUSCULAR DYSTROPHIES; MUTATION; MYOTONIA CONGENITA;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHINA; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES; MUTATION; MYOTONIA CONGENITA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; YOUNG ADULT;

EID: 84937642306     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2015.03.002     Document Type: Article

References (24)

1. Romero N.B., Clarke N.F. Congenital myopathies. Handb Clin Neurol 2013, 113:1321-1336.
2. Ryan M.M.1., Schnell C., Strickland C.D., et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001, 50(3):312-320.
3. Ferreiro A.1., Quijano-Roy S., Pichereau C., et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002, 71(4):739-749.
4. Clarke N.F.1., Kidson W., Quijano-Roy S., et al. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol 2006, 59(3):546-552.
5. Ng S.B., Buckingham K.J., Lee C., et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010, 42:30-35.
6. Calvo S.E., Compton A.G., Hershman S.G., et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 2012, 4:118ra110.
7. Wei X., Ju X., Yi X., et al. Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing. PLoS ONE 2011, 6:e29500.
8. Bovolenta M., Scotton C., Falzarano M.S., Gualandi F., Ferlini A. Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. Hum Mutat 2012, 33:572-581.
9. Li H., Handsaker B., Wysoker A., et al. The sequence alignment/map format and SAMtools. Bioinformatics 2009, 25:2078-2079.
10. Wei X., Dai Y., Yu P., et al. Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study. Eur J Hum Genet 2014, 22(1):110-118.
11. Bushby K., Finkel R., Birnkrant D.J., et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010, 9(1):77-93.
12. Moore S.A., Shilling C.J., Westra S., et al. Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol 2006, 65(10):995-1003.
13. Vainzof M.1., Passos-Bueno M.R., Pavanello R.C., et al. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. J Neurol Sci 1999, 164(1):44-49.
14. Boito C.A.1., Melacini P., Vianello A., et al. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol 2005, 62(12):1894-1899.
15. Brockington M.1., Blake D.J., Prandini P., et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001, 69(6):1198-1209.
16. Duno M., Sveen M.L., Schwartz M., Vissing J. cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. Eur J Hum Genet 2008, 16(8):935-940.
17. McCarroll S.A., Altshuler D.M. Copy-number variation and association studies of human disease. Nat Genet 2007, 39(7 Suppl.):S37-42.
18. Mefford H.C., Muhle H., Ostertag P., et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 2010, 6(5):e1000962. 10.1371/journal.pgen.1000962.
19. Leshinsky-Silver E., Argov Z., Rozenboim L., et al. Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene. Neuromuscul Disord 2007, 17(11-12):950-954.
20. Vilchez J.J., Gallano P., Gallardo E., et al. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol 2005, 62(8):1256-1259.
21. Menezes M.P., Waddell L.B., Evesson F.J., et al. Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology 2012, 78(16):1258-1263.
22. Sambuughin N., Yau K.S., Olive M., et al. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 2010, 87(6):842-847.
23. Horstick E.J., Linsley J.W., Dowling J.J., et al. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nat Commun 2013, 4:1952. 10.1038/ncomms2952.
24. Jamuar S.S.1., Lam A.T., Kircher M., et al. Somatic mutations in cerebral cortical malformations. N Engl J Med 2014, 371(8):733-743.