Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type i

American Journal of Human Genetics

Volumn 88, Issue 1, 2011, Pages 99-105

  Guelly, Christian ^a   Zhu, Peng Peng ^b   Leonardis, Lea ^c   Papić, Lea ^a   Zidar, Janez ^c   Schabhüttl, Maria ^a   Strohmaier, Heimo ^a   Weis, Joachim ^d   Strom, Tim M ^e   Baets, Jonathan ^f,g,h   Willems, Jan ⁱ   De Jonghe, Peter ^f,g,h   Reilly, Mary M ^j   Fröhlich, Eleonore ^a   Hatz, Martina ^a   Trajanoski, Slave ^a   Pieber, Thomas R ^a   Janecke, Andreas R ^k   Blackstone, Craig ^b   Auer Grumbach, Michaela ^a  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^d RWTH AACHEN UNIVERSITY   (Germany)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f UNIVERSITY OF ANTWERP   (Belgium)

^g UNIVERSITY OF ANTWERP   (Belgium)

^h ANTWERP UNIVERSITY HOSPITAL   (Belgium)

ⁱ ZNA Middelheim   (Belgium)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k INNSBRUCK MEDICAL UNIVERSITY   (Austria)

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Author keywords

[No Author keywords available]

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR RECEPTOR; GENOMIC DNA; GUANOSINE TRIPHOSPHATASE; PROTEIN KINASE WNK1; RAB7 PROTEIN; SERINE PALMITOYLTRANSFERASE;

ARTICLE; ATLASTIN 1 GENE; CARBOXY TERMINAL SEQUENCE; CELL STRAIN COS7; CEREBRAL PALSY; CHROMOSOME 14Q; CHROMOSOME 5Q; ELECTROMYOGRAPHY; ENZYME ACTIVITY; FOOT ULCER; GENE; GENE LOCUS; GENE MUTATION; GIANT AXONAL NEUROPATHY; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SENSORY NEUROPATHY TYPE 1; HIGH THROUGHPUT SCREENING; HUMAN; MISSENSE MUTATION; NERVE INJURY; NEUROPATHY; NOCICEPTION; PRIORITY JOURNAL; SPASTICITY; TENDON REFLEX;

ANIMALS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; CHROMOSOMES, HUMAN, PAIR 14; COS CELLS; ENDOPLASMIC RETICULUM; EXONS; FEMALE; GENES, DOMINANT; GTP PHOSPHOHYDROLASES; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 78650899552     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.12.003     Document Type: Article

References (23)

1. S.B. Ng, K.J. Buckingham, C. Lee, A.W. Bigham, H.K. Tabor, K.M. Dent, C.D. Huff, P.T. Shannon, E.W. Jabs, and D.A. Nickerson Exome sequencing identifies the cause of a Mendelian disorder Nat. Genet. 42 2010 30 35
2. A.U. Rehman, R.J. Morell, I.A. Belyantseva, S.Y. Khan, E.T. Boger, M. Shahzad, Z.M. Ahmed, S. Riazuddin, S.N. Khan, and S. Riazuddin Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79 Am. J. Hum. Genet. 86 2010 378 388
3. K. Nikopoulos, C. Gilissen, A. Hoischen, C.E. van Nouhuys, F.N. Boonstra, E.A.W. Blokland, P. Arts, N. Wieskamp, T.M. Strom, and C. Ayuso Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy Am. J. Hum. Genet. 86 2010 240 247
4. G.A. Nicholson Hereditary sensory neuropathy I R.A. Pagon, T.C. Bird, K. Stephens, GeneReviews 2010 University of Washington Seattle, WA PMID: 20301564
5. J.L. Dawkins, D.J. Hulme, S.B. Brahmbhatt, M. Auer-Grumbach, and G.A. Nicholson Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I Nat. Genet. 27 2001 309 312
6. A. Rotthier, M. Auer-Grumbach, K. Janssens, J. Baets, A. Penno, L. Almeida-Souza, K. Van Hoof, A. Jacobs, E. De Vriendt, and B. Schlotter-Weigel Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I Am. J. Hum. Genet. 87 2010 513 522
7. K. Verhoeven, P. De Jonghe, K. Coen, N. Verpoorten, M. Auer-Grumbach, J.M. Kwon, D. FitzPatrick, E. Schmedding, E. De Vriendt, and A. Jacobs Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy Am. J. Hum. Genet. 72 2003 722 727 (Pubitemid 36255971)
8. D.F. Gudbjartsson, T. Thorvaldsson, A. Kong, G. Gunnarsson, and A. Ingolfsdottir Allegro version 2 Nat. Genet. 37 2005 1015 1016
9. P.-P. Zhu, C. Soderblom, J.-H. Tao-Cheng, J. Stadler, and C. Blackstone SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development Hum. Mol. Genet. 15 2006 1343 1353
10. N. Rismanchi, C. Soderblom, J. Stadler, P.-P. Zhu, and C. Blackstone Atlastin GTPases are required for Golgi apparatus and ER morphogenesis Hum. Mol. Genet. 17 2008 1591 1604
11. S.H. Park, P.-P. Zhu, R.L. Parker, and C. Blackstone Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network J. Clin. Invest. 120 2010 1097 1110
12. I.A. Meijer, P. Dion, S. Laurent, N. Dupré, B. Brais, A. Levert, J. Puymirat, M.F. Rioux, M. Sylvain, and P.-P. Zhu Characterization of a novel SPG3A deletion in a French-Canadian family Ann. Neurol. 61 2007 599 603
13. J. Hu, Y. Shibata, P.-P. Zhu, C. Voss, N. Rismanchi, W.A. Prinz, T.A. Rapoport, and C. Blackstone A class of dynamin-like GTPases involved in the generation of the tubular ER network Cell 138 2009 549 561
14. G. Orso, D. Pendin, S. Liu, J. Tosetto, T.J. Moss, J.E. Faust, M. Micaroni, A. Egorova, A. Martinuzzi, J.A. McNew, and A. Daga Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin Nature 460 2009 978 983
15. M. Namekawa, M.-P. Muriel, A. Janer, M. Latouche, A. Dauphin, T. Debeir, E. Martin, C. Duyckaerts, A. Prigent, and C. Depienne Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis Mol. Cell. Neurosci. 35 2007 1 13
16. X. Zhao, D. Alvarado, S. Rainier, R. Lemons, P. Hedera, C.H. Weber, T. Tukel, M. Apak, T. Heiman-Patterson, and L. Ming Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia Nat. Genet. 29 2001 326 331
17. N. Ivanova, K.G. Claeys, T. Deconinck, I. Litvinenko, A. Jordanova, M. Auer-Grumbach, J. Haberlova, A. Löfgren, G. Smeyers, and E. Nelis Hereditary spastic paraplegia 3A associated with axonal neuropathy Arch. Neurol. 64 2007 706 713
18. D.S. McCorquodale III, U. Ozomaro, J. Huang, G. Montenegro, A. Kushman, L. Citrigno, J. Price, F. Speziani, M.A. Pericak-Vance, and S. Züchner Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia Clin. Genet. 2010 in press
19. C. Blackstone, C.J. O'Kane, and E. Reid Hereditary spastic paraplegias: Membrane traffic and the motor pathway Nat. Rev. Neurosci. 12 2011 31 42
20. C. Fassier, J.A. Hutt, S. Scholpp, A. Lumsden, B. Giros, F. Nothias, S. Schneider-Maunoury, C. Houart, and L. Hazan Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway Nat. Neurosci. 13 2010 1380 1387
21. M. Auer-Grumbach, P. De Jonghe, K. Wagner, K. Verhoeven, H.-P. Hartung, and V. Timmerman Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus Neurology 55 2000 1552 1557
22. M. Fukuda Regulation of secretory vesicle traffic by Rab small GTPases Cell. Mol. Life Sci. 65 2008 2801 2813
23. B.A. McCray, E. Skordalakes, and J.P. Taylor Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation Hum. Mol. Genet. 19 2010 1033 1047