Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1

European Journal of Human Genetics

Volumn 22, Issue 4, 2014, Pages 522-527

  Ylikallio, Emil ^a   Johari, Mridul ^a   Konovalova, Svetlana ^a   Moilanen, Jukka S ^b   Kiuru Enari, Sari ^c   Auranen, Mari ^a,c   Pajunen, Leila ^b   Tyynismaa, Henna ^a,d  

^a UNIVERSITY OF HELSINKI   (Finland)

^b OULU UNIVERSITY HOSPITAL   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Axonal neuropathy; Charcot Marie Tooth disease; Targeted next generation sequencing

Indexed keywords

ARTICLE; CLINICAL ARTICLE; FINLAND; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HEAT SHOCK PROTEIN 27 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOLECULAR DIAGNOSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AXONS; CELL CYCLE PROTEINS; CHARCOT-MARIE-TOOTH DISEASE; EXONS; FEMALE; FINLAND; GENETIC HETEROGENEITY; GENETIC TESTING; GENOME-WIDE ASSOCIATION STUDY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HSP27 HEAT-SHOCK PROTEINS; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; YOUNG ADULT;

EID: 84896547820     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.190     Document Type: Article

References (20)

1. Szigeti K, Lupski JR: Charcot-Marie-Tooth disease. Eur J Hum Genet 2009; 17: 703-710
2. 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
3. Shy ME, Patzko A: Axonal Charcot-Marie-Tooth disease. Curr Opin Neurol 2011; 24: 475-483
4. 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
5. Auranen M, Ylikallio E, Toppila J, Somer M, Kiuru-Enari S, Tyynismaa H: Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland. Neurogenetics 2013; 14: 123-132
6. Choi BO, Koo SK, Park MH et al: Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease. Hum Mutat 2012; 33: 1610-1615
7. Lupski JR, Reid JG, Gonzaga-Jauregui C et al: Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 2010; 362: 1181-1191
8. Weedon MN, Hastings R, Caswell R et al: Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet 2011; 89: 308-312
9. Sulonen AM, Ellonen P, Almusa H et al: Comparison of solution-based exome capture methods for next generation sequencing. Genome Biol 2011; 12: R94
10. Engelfried K, Vorgerd M, Hagedorn M et al: Charcot-Marie-Tooth neuropathy type 2A: Novel mutations in the mitofusin 2 gene (MFN2). BMC Med Genet 2006; 7: 53
11. Braathen GJ, Sand JC, Lobato A, Hoyer H, Russell MB: MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families. BMC Med Genet 2010; 11: 48
12. Albulym OM, Zhu D, Reddel S, Kennerson M, Nicholson G: The MFN2 V705I variant is not a disease-causing mutation: A segregation analysis in a CMT2 family. J Neurodegenerative Dis 2013; 2013; doi:10.1155/2013/495873
13. Evgrafov OV, Mersiyanova I, Irobi J et al: Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 2004; 36: 602-606
14. Osman C, Merkwirth C, Langer T: Prohibitins and the functional compartmentalization of mitochondrial membranes. J Cell Sci 2009; 122: 3823-3830
15. Faber CG, Hoeijmakers JG, Ahn HS et al: Gain of function Nanu1.7 mutations in idiopathic small fiber neuropathy. Ann Neurol 2012; 71: 26-39
16. Estacion M, Han C, Choi JS et al: Intra- And interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7. Mol Pain 2011; 7: 92
17. Persson AK, Liu S, Faber CG, Merkies IS, Black JA, Waxman SG: Neuropathyassociated Nav1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons. Ann Neurol 2013; 73: 140-145
18. Patzko A, Shy ME: Update on Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep 2011; 11: 78-88
19. Sathirapongsasuti JF, Lee H, Horst BA et al: Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV. Bioinformatics 2011; 27: 2648-2654
20. Braathen GJ, Sand JC, Lobato A, Hoyer H, Russell MB: Genetic epidemiology of Charcot-Marie-Tooth in the general population. Eur J Neurol 2011; 18: 39-48