Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy

Neurology

Volumn 86, Issue 19, 2016, Pages 1762-1771

  Wang, Wei ^a,d   Wang, Chen ^b   Brian Dawson, D ^b,c   Thorland, Erik C ^b   Lundquist, Patrick A ^b   Eckloff, Bruce W ^b   Wu, Yanhong ^b   Baheti, Saurabh ^b   Evans, Jared M ^b   Scherer, Steven S ^e   Dyck, Peter J ^a   Klein, Christopher J ^a,b,c  

^a Departments of Neurology   (United States)

^b Department of Health Science Research ^*  (United States)

^c MAYO CLINIC   (United States)

^d CHINA JAPAN FRIENDSHIP HOSPITAL   (China)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22; MPZ PROTEIN, HUMAN; MYELIN PROTEIN; PMP22 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BIOINFORMATICS; CHILD; CHRONIC IDIOPATHIC AXONAL POLYNEUROPATHY; COST BENEFIT ANALYSIS; GENE DOSAGE; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; HEREDITARY MOTOR AND SENSORY POLYNEUROPATHY; HEREDITARY MOTOR NEUROPATHY; HUMAN; IDIOPATHIC DISEASE; IDIOPATHIC NEUROPATHY; INHERITED NEUROPATHY; MAJOR CLINICAL STUDY; MOTOR NEUROPATHY; NERVE CONDUCTION; NEXT GENERATION SEQUENCING; ONSET AGE; PHENOTYPE; POLYNEUROPATHY; PRIORITY JOURNAL; AGED; ALGORITHM; COPY NUMBER VARIATION; ECONOMICS; GENETIC SCREENING; GENETICS; HEALTH CARE COST; HIGH THROUGHPUT SEQUENCING; MIDDLE AGED; MUTATION; PRESCHOOL CHILD; PROCEDURES; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ALGORITHMS; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; GENETIC TESTING; HEALTH CARE COSTS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MIDDLE AGED; MUTATION; MYELIN P0 PROTEIN; MYELIN PROTEINS; POLYNEUROPATHIES; YOUNG ADULT;

EID: 84978370397     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000002659     Document Type: Article

References (39)

1. Hoffman EM, Staff NP, Robb JM, St Sauver JL, Dyck PJ, Klein CJ. Impairments and comorbidities of polyneurop-athy revealed by population-based analyses. Neurology 2015;84:1644-1651.
2. Callaghan B, McCammon R, Kerber K, Xu X, Langa KM, Feldman E. Tests and expenditures in the initial evaluation of peripheral neuropathy. Arch Intern Med 2012;172: 127-132.
3. Rossor AM, Polke JM, Houlden H, Reilly MM. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol 2013;9:562-571.
4. Klein CJ, Duan X, Shy ME. Inherited neuropathies: clinical overview and update. Muscle Nerve 2013;48: 604-622.
5. Beutler AS, Kulkarni AA, Kanwar R, et al. Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneurop-athy. Ann Neurol 2014;76:727-737.
6. Chahin N, Zeldenrust SR, Amrami KK, Engelstad JK, Dyck PJ. Two causes of demyelinating neuropathy in one patient: CMT1A and POEMS syndrome. Can J Neu-rol Sci 2007;34:380-385.
7. Chaudhry V, Chaudhry M, Crawford TO, Simmons-O'Brien E, Griffin JW. Toxic neuropathy in patients with pre-existing neuropathy. Neurology 2003;60:337-340.
8. Fridman V, Bundy B, Reilly MM, et al. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry 2015;86:873-878.
9. Dyck PJ, Oviatt KF, Lambert EH. Intensive evaluation of referred unclassified neuropathies yields improved diagnosis. Ann Neurol 1981;10:222-226.
10. Burns TM, Mauermann ML. The evaluation of poly-neuropathies. Neurology 2011;76:S6-S13.
11. Dyck PJ, Dyck PJ, Chalk CH. The 10 P's: a mnemonic helpful in characterization and differential diagnosis of peripheral neuropathy. Neurology 1992;42:14-18.
12. England JD, Gronseth GS, Franklin G, et al. Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review): report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiag-nostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology 2009;72:185-192.
13. Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 2011;69:22-33.
14. Timmerman V, Strickland AV, Zuchner S. Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the Human Genome Project success. Genes 2014;5: 13-32.
15. Foo JN, Liu JJ, Tan EK. Whole-genome and whole-exome sequencing in neurological diseases. Nat Rev Neurol 2012; 8:508-517.
16. Klein CJ, Middha S, Duan X, et al. Application of whole exome sequencing in undiagnosed inherited polyneuropa-thies. J Neurol Neurosurg Psychiatry 2014;85:1265-1272.
17. Kornak U, Mademan I, Schinke M, et al. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain 2014;137: 683-692.
18. Montenegro G, Powell E, Huang J, et al. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol 2011;69:464-470.
19. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-424.
20. Wang C, Evans JM, Bhagwate AV, et al. PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data. Bioinformatics 2014;30:2678-2680.
21. Hughes RA, Umapathi T, Gray IA, et al. A controlled investigation of the cause of chronic idiopathic axonal pol-yneuropathy. Brain 2004;127:1723-1730.
22. Notermans NC, Wokke JH, van der Graaf Y, Franssen H, van Dijk GW, Jennekens FG. Chronic idiopathic axonal polyneuropathy: a five year follow up. J Neurol Neurosurg Psychiatry 1994;57:1525-1527.
23. Hoyer H, Braathen GJ, Eek AK, Skjelbred CF, Russell MB. Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero. Eur J Med Genet 2011;54:e580-583.
24. Houlden H, Groves M, Miedzybrodzka Z, et al. New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. J Neurol Neurosurg Psychiatry 2007;78:1267-1270.
25. Jaffer F, Murphy SM, Scoto M, et al. BAG3 mutations: another cause of giant axonal neuropathy. J Peripher Nerv Syst 2012;17:210-216.
26. Shabbeer J, Yasuda M, Luca E, Desnick RJ. Fabry disease: 45 novel mutations in the alpha-galactosidase A gene caus ing the classical phenotype. Mol Genet Metab 2002;76: 23-30.
27. Blanch LC, Meaney C, Morris CP. A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene. Hum Mutat 1996;8:38-43.
28. Eng CM, Ashley GA, Burgert TS, Enriquez AL, D'Souza M, Desnick RJ. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 1997;3:174-182.
29. Huang J, Han C, Estacion M, et al. Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. Brain 2014;137:1627-1642.
30. Fridman V, Oaklander AL, David WS, et al. Natural history and biomarkers in hereditary sensory neuropathy type 1. Muscle Nerve 2015;51:489-495.
31. Garofalo K, Penno A, Schmidt BP, et al. Oral L-serine supplementation reduces production of neurotoxic deoxy-sphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. J Clin Invest 2011;121: 4735-4745.
32. Maeda MH, Mitsui J, Soong BW, et al. Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease. Ann Neurol 2012;71:84-92.
33. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232.
34. Smith AG, Singleton JR. The diagnostic yield of a standardized approach to idiopathic sensory-predominant neuropathy. Arch Intern Med 2004;164:1021-1025.
35. England JD, Gronseth GS, Franklin G, et al. Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Muscle Nerve 2009;39:116-125.
36. Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. OMIM.org: Online Mendelian Inheritance in Man (OMIM(R)), an online catalog of human genes and genetic disorders. Nucleic Acids Res 2015;43:D789-D798.
37. Singer MA, Vernino SA, Wolfe GI. Idiopathic neuropathy: new paradigms, new promise. J Peripher Nerv Syst 2012;17(suppl 2):43-49.
38. Schiavon F, Rampazzo A, Merlini L, Angelini C, Mostacciuolo ML. Mutations of the same sequence of the myelin P0 gene causing two different phenotypes. Hum Mutat 1998(suppl 1):S217-S219.
39. De Jonghe P, Timmerman V, Ceuterick C, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999;122: 281-290.