A nonsense mutation in DHTKD1 causes charcot-marie-tooth disease type 2 in a large chinese pedigree

American Journal of Human Genetics

Volumn 91, Issue 6, 2012, Pages 1088-1094

  Xu, Wang Yang ^a   Gu, Ming Min ^a   Sun, Lian Hua ^a   Guo, Wen Ting ^a   Zhu, Hou Bao ^a   Ma, Jian Fang ^b   Yuan, Wen Tao ^c   Kuang, Ying ^d   Ji, Bao Jun ^e   Wu, Xiao Lin ^a   Chen, Yan ^a   Zhang, Hong Xin ^a   Sun, Fu Ting ^e   Huang, Wei ^c   Huang, Lei ^a   Chen, Sheng Di ^b   Wang, Zhu Gang ^a,d  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

^c CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

^d Shanghai Research Center for Model Organisms   (China)

^e WEIFANG PEOPLE'S HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; DEHYDROGENASE E1 AND TRANSKETOLASE DOMAIN CONTAINING 1; MESSENGER RNA; NICOTINAMIDE ADENINE DINUCLEOTIDE; OXIDOREDUCTASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; SMALL INTERFERING RNA; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CELL STRAIN HEK293; CHARCOT MARIE TOOTH DISEASE TYPE 2; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; ELECTRON MICROSCOPY; ETHNIC GROUP; EXON; FAMILY STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC MARKER; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; MALE; MITOCHONDRION; MOTOR NERVE; MUSCLE ATROPHY; MUSCLE BIOPSY; MYOFILAMENT; NERVE CONDUCTION; NEUROPATHY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SARCOMERE;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CHINA; CODON, NONSENSE; EXONS; FEMALE; GENE ORDER; HUMANS; KETONE OXIDOREDUCTASES; MALE; MITOCHONDRIA, MUSCLE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; NONSENSE MEDIATED MRNA DECAY; PEDIGREE;

EID: 84870888232     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.09.018     Document Type: Article

References (23)

1. J.M. Charcot, and P. Marie Sur une form particuliere d'atrophie musculaire progressive, souvant familiale, debutant par les pieds et les jambes, et atteignant plus tard les mains Rev. Med. (Paris) 6 1886 97 138
2. H.H. Tooth The peroneal type of progressive muscular atrophy 1886 H. K. Lewis London
3. D. Pareyson, V. Scaioli, and M. Laurà Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease Neuromolecular Med. 8 2006 3 22
4. I. Banchs, C. Casasnovas, A. Albertí, L. De Jorge, M. Povedano, J. Montero, J.A. Martínez-Matos, and V. Volpini Diagnosis of Charcot-Marie-Tooth disease J. Biomed. Biotechnol. 2009 2009 985415
5. A.S. Saporta, S.L. Sottile, L.J. Miller, S.M. Feely, C.E. Siskind, and M.E. Shy Charcot-Marie-Tooth disease subtypes and genetic testing strategies Ann. Neurol. 69 2011 22 33
6. J.R. Lupski, J.G. Reid, C. Gonzaga-Jauregui, D. Rio Deiros, D.C.Y. Chen, L. Nazareth, M. Bainbridge, H. Dinh, C. Jing, and D.A. Wheeler Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy N. Engl. J. Med. 362 2010 1181 1191
7. A. Puwanant, and D.N. Herrmann Hereditary motor sensory neuropathies (Charcot-Marie-Tooth disease) in neuromuscular disorders R. Tawil, S. Venance, 2011 Wiley-Blackwell Hoboken, USA 165
8. S. Züchner, and J.M. Vance Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease Neuromolecular Med. 8 2006 63 74
9. Á. Patzkó, and M.E. Shy Update on Charcot-Marie-Tooth disease Curr. Neurol. Neurosci. Rep. 11 2011 78 88
10. H.M. McLaughlin, R. Sakaguchi, W. Giblin, T.E. Wilson, L. Biesecker, J.R. Lupski, K. Talbot, J.M. Vance, S. Züchner, Y.C. Lee NISC Comparative Sequencing Program A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N) Hum. Mutat. 33 2012 244 253
11. A. Niemann, P. Berger, and U. Suter Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease Neuromolecular Med. 8 2006 217 242
12. J. Cassereau, A. Chevrollier, N. Gueguen, V. Desquiret, C. Verny, G. Nicolas, F. Dubas, P. Amati-Bonneau, P. Reynier, D. Bonneau, and V. Procaccio Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations Exp. Neurol. 227 2011 31 41
13. S.M. Murphy, D.N. Herrmann, M.P. McDermott, S.S. Scherer, M.E. Shy, M.M. Reilly, and D. Pareyson Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease J. Peripher. Nerv. Syst. 16 2011 191 198
14. G.A. Jansen, R.J. Wanders, P.A. Watkins, and S.J. Mihalik Phytanoyl-coenzyme A hydroxylase deficiency - The enzyme defect in Refsum's disease N. Engl. J. Med. 337 1997 133 134 (Pubitemid 27284405)
15. V.I. Bunik, and D. Degtyarev Structure-function relationships in the 2-oxo acid dehydrogenase family: substrate-specific signatures and functional predictions for the 2-oxoglutarate dehydrogenase-like proteins Proteins 71 2008 874 890 (Pubitemid 351430022)
16. J.C. Venter, M.D. Adams, E.W. Myers, P.W. Li, R.J. Mural, G.G. Sutton, H.O. Smith, M. Yandell, C.A. Evans, and R.A. Holt The sequence of the human genome Science 291 2001 1304 1351 (Pubitemid 32173090)
17. M. Khajavi, K. Inoue, and J.R. Lupski Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease Eur. J. Hum. Genet. 14 2006 1074 1081 (Pubitemid 44463965)
18. J.T. Mendell, C.M. ap Rhys, and H.C. Dietz Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts Science 298 2002 419 422 (Pubitemid 35176351)
19. G.E. Gibson, L.C. Park, K.F. Sheu, J.P. Blass, and N.Y. Calingasan The α-ketoglutarate dehydrogenase complex in neurodegeneration Neurochem. Int. 36 2000 97 112
20. + and NADH regulate an ATP-dependent kinase that phosphorylates enzyme I of the Escherichia coli phosphotransferase system Proc. Natl. Acad. Sci. USA 89 1992 11274 11276
21. A. Santel, and M.T. Fuller Control of mitochondrial morphology by a human mitofusin J. Cell Sci. 114 2001 867 874 (Pubitemid 32266258)
22. S. Pich, D. Bach, P. Briones, M. Liesa, M. Camps, X. Testar, M. Palacín, and A. Zorzano The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system Hum. Mol. Genet. 14 2005 1405 1415 (Pubitemid 40823451)
23. J. Cassereau, A. Chevrollier, N. Gueguen, M.C. Malinge, F. Letournel, G. Nicolas, L. Richard, M. Ferre, C. Verny, and F. Dubas Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K) Neurogenetics 10 2009 145 150