Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

American Journal of Human Genetics

Volumn 92, Issue 6, 2013, Pages 965-973

  Oates, Emily C ^a,b   Rossor, Alexander M ^c   Hafezparast, Majid ^d   Gonzalez, Michael ^e   Speziani, Fiorella ^e   Macarthur, Daniel G ^f,g   Lek, Monkol ^f,g   Cottenie, Ellen ^c   Scoto, Mariacristina ^h   Foley, A Reghan ^h   Hurles, Matthew ⁱ   Houlden, Henry ^c   Greensmith, Linda ^c   Auer Grumbach, Michaela ^j   Pieber, Thomas R ^k   Strom, Tim M ^l,m   Schule, Rebecca ⁿ   Herrmann, David N ^o   Sowden, Janet E ^o   Acsadi, Gyula ^p   Menezes, Manoj P ^a,b   Clarke, Nigel F ^a,b   Züchner, Stephan ^e   Muntoni, Francesco ^h   North, Kathryn N ^a,q,r   Reilly, Mary M ^c   more..

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b University of Sydney   (Australia)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF SUSSEX   (United Kingdom)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^j MEDICAL UNIVERSITY OF VIENNA   (Austria)

^k MEDICAL UNIVERSITY OF GRAZ   (Austria)

^l INSTITUTE OF EPIDEMIOLOGY   (Germany)

^m TECHNICAL UNIVERSITY OF MUNICH   (Germany)

ⁿ UNIVERSITY OF TÜBINGEN   (Germany)

^o UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^p Farmington   (United States)

^q ROYAL CHILDREN'S HOSPITAL   (Australia)

^r UNIVERSITY OF MELBOURNE   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; BICAUDAL D HOMOLOG 2 PROTEIN; CYTOPLASMIC DYNEIN; DYNACTIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BINDING AFFINITY; CLINICAL FEATURE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; MOTONEURON; PRIORITY JOURNAL; PROTEIN INTERACTION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CYTOPLASMIC DYNEINS; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; MUTATION, MISSENSE; PARAPLEGIA; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BINDING; YOUNG ADULT;

EID: 84878835790     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.04.018     Document Type: Article

References (21)

1. P. Fleury, and G. Hageman A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis J. Neurol. Neurosurg. Psychiatry 48 1985 1037 1048
2. E. Mercuri, S. Messina, M. Kinali, C. Cini, C. Longman, R. Battini, G. Cioni, and F. Muntoni Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study Neuromuscul. Disord. 14 2004 125 129
3. S. Reddel, R.A. Ouvrier, G. Nicholson, I. Dierick, J. Irobi, V. Timmerman, and M.M. Ryan Autosomal dominant congenital spinal muscular atrophy - a possible developmental deficiency of motor neurones? Neuromuscul. Disord. 18 2008 530 535
4. S. Salinas, C. Proukakis, A. Crosby, and T.T. Warner Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms Lancet Neurol. 7 2008 1127 1138
5. E.C. Oates, S. Reddel, M.L. Rodriguez, L.C. Gandolfo, M. Bahlo, S.H. Hawke, S.R. Lamandé, N.F. Clarke, and K.N. North Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells Brain 135 2012 1714 1723
6. D.A. Wheeler, M. Srinivasan, M. Egholm, Y. Shen, L. Chen, A. McGuire, W. He, Y.J. Chen, V. Makhijani, and G.T. Roth The complete genome of an individual by massively parallel DNA sequencing Nature 452 2008 872 876
7. H. Li, and R. Durbin Fast and accurate short read alignment with Burrows-Wheeler transform Bioinformatics 25 2009 1754 1760
8. A. McKenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly, and M.A. DePristo The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data Genome Res. 20 2010 1297 1303
9. W. McLaren, B. Pritchard, D. Rios, Y. Chen, P. Flicek, and F. Cunningham Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor Bioinformatics 26 2010 2069 2070
10. S. Züchner, J. Dallman, R. Wen, G. Beecham, A. Naj, A. Farooq, M.A. Kohli, P.L. Whitehead, W. Hulme, and I. Konidari Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa Am. J. Hum. Genet. 88 2011 201 206
11. M.A. Gonzalez, R.F. Acosta Lebrigio, D. Van Booven, R.H. Ulloa, E. Powell, F. Speziani, M. Tekin, R. Schüle, and S. Züchner GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis Hum. Mutat. 2013 10.1002/humu.22305 Published online March 5, 2013
12. M.B. Harms, K.M. Ori-McKenney, M. Scoto, E.P. Tuck, S. Bell, D. Ma, S. Masi, P. Allred, M. Al-Lozi, and M.M. Reilly Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy Neurology 78 2012 1714 1720
13. S.L. Bullock, and D. Ish-Horowicz Conserved signals and machinery for RNA transport in Drosophila oogenesis and embryogenesis Nature 414 2001 611 616
14. T. Matanis, A. Akhmanova, P. Wulf, E. Del Nery, T. Weide, T. Stepanova, N. Galjart, F. Grosveld, B. Goud, and C.I. De Zeeuw Bicaudal-D regulates COPI-independent Golgi-ER transport by recruiting the dynein-dynactin motor complex Nat. Cell Biol. 4 2002 986 992
15. C.C. Hoogenraad, A. Akhmanova, S.A. Howell, B.R. Dortland, C.I. De Zeeuw, R. Willemsen, P. Visser, F. Grosveld, and N. Galjart Mammalian Golgi-associated Bicaudal-D2 functions in the dynein-dynactin pathway by interacting with these complexes EMBO J. 20 2001 4041 4054
16. A. Swan, and B. Suter Role of Bicaudal-D in patterning the Drosophila egg chamber in mid-oogenesis Development 122 1996 3577 3586
17. M.A. Schlager, L.C. Kapitein, I. Grigoriev, G.M. Burzynski, P.S. Wulf, N. Keijzer, E. de Graaff, M. Fukuda, I.T. Shepherd, A. Akhmanova, and C.C. Hoogenraad Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis EMBO J. 29 2010 1637 1651
18. I. Grigoriev, D. Splinter, N. Keijzer, P.S. Wulf, J. Demmers, T. Ohtsuka, M. Modesti, I.V. Maly, F. Grosveld, C.C. Hoogenraad, and A. Akhmanova Rab6 regulates transport and targeting of exocytotic carriers Dev. Cell 13 2007 305 314
19. X. Li, H. Kuromi, L. Briggs, D.B. Green, J.J. Rocha, S.T. Sweeney, and S.L. Bullock Bicaudal-D binds clathrin heavy chain to promote its transport and augments synaptic vesicle recycling EMBO J. 29 2010 992 1006
20. K.H. Pfenninger Plasma membrane expansion: a neuron's Herculean task Nat. Rev. Neurosci. 10 2009 251 261
21. S. Swift, J. Xu, V. Trivedi, K.M. Austin, S.L. Tressel, L. Zhang, L. Covic, and A. Kuliopulos A novel protease-activated receptor-1 interactor, Bicaudal D1, regulates G protein signaling and internalization J. Biol. Chem. 285 2010 11402 11410