De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

American Journal of Human Genetics

Volumn 98, Issue 4, 2016, Pages 763-771

  Mencacci, Niccolò E ^a,b   Kamsteeg, Erik Jan ^c   Nakashima, Kosuke ^d   R'Bibo, Lea ^a   Lynch, David S ^a   Balint, Bettina ^a,e   Willemsen, Michèl A A P ^c   Adams, Matthew E ^f   Wiethoff, Sarah ^a,g   Suzuki, Kazunori ^d   Davies, Ceri H ^d   Ng, Joanne ^h,i   Meyer, Esther ^h   Veneziano, Liana ^j   Giunti, Paola ^a   Hughes, Deborah ^a   Raymond, F Lucy ^k   Carecchio, Miryam ^l   Zorzi, Giovanna ^l   Nardocci, Nardo ^l   Barzaghi, Chiara ^l   Garavaglia, Barbara ^l   Salpietro, Vincenzo ^a   Hardy, John ^a,m   Pittman, Alan M ^a,m   Houlden, Henry ^a   Kurian, Manju A ^h,i   Kimura, Haruhide ^d   Vissers, Lisenka E L M ^c   Wood, Nicholas W ^a   Bhatia, Kailash P ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF MILAN   (Italy)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d TAKEDA PHARMACEUTICAL COMPANY LIMITED   (Japan)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^f NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^g UNIVERSITY OF TÜBINGEN   (Germany)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^j INSTITUTE OF TRANSLATIONAL PHARMACOLOGY   (Italy)

^k UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^l DEPARTMENT OF NEUROSURGERY   (Italy)

^m UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYCLIC AMP; CYCLIC GMP; LEUCINE; PHENYLALANINE; PHOSPHODIESTERASE; PDE10A PROTEIN, HUMAN;

ADULT; ARTICLE; BASAL GANGLION; BINDING SITE; CASE REPORT; CHILD; CHOREA; CORPUS STRIATUM; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; MALE; MIDDLE AGED; NERVE PROJECTION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PDE10A GENE; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SIGNAL TRANSDUCTION; YOUNG ADULT; AMINO ACID SEQUENCE; ANIMAL; GENETICS; METABOLISM; MOLECULAR GENETICS; MOUSE; MUTATION; PATHOLOGY; PEDIGREE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; ANIMALS; CHILD; CHOREA; CORPUS STRIATUM; CYCLIC AMP; CYCLIC GMP; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHOSPHORIC DIESTER HYDROLASES; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; SIGNAL TRANSDUCTION; YOUNG ADULT;

EID: 84964892380     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.02.015     Document Type: Article

References (49)

1. C. Klein Genetics in dystonia Parkinsonism Relat. Disord. 20 Suppl 1 2014 S137 S142
2. M. Spatola, and C. Wider Genetics of Parkinson's disease: the yield Parkinsonism Relat. Disord. 20 Suppl 1 2014 S35 S38
3. A.R. Gardiner, F. Jaffer, R.C. Dale, R. Labrum, R. Erro, E. Meyer, G. Xiromerisiou, M. Stamelou, M. Walker, D. Kullmann, and et al. The clinical and genetic heterogeneity of paroxysmal dyskinesias Brain 138 2015 3567 3580
4. A. Hermann, and R.H. Walker Diagnosis and treatment of chorea syndromes Curr. Neurol. Neurosci. Rep. 15 2015 514
5. A.H. Gittis, and A.C. Kreitzer Striatal microcircuitry and movement disorders Trends Neurosci. 35 2012 557 564
6. K.J. Peall, and M.A. Kurian Benign Hereditary Chorea: An Update Tremor Other Hyperkinet. Mov. (N. Y.) 5 2015 314
7. J. de Ligt, M.H. Willemsen, B.W. van Bon, T. Kleefstra, H.G. Yntema, T. Kroes, A.T. Vulto-van Silfhout, D.A. Koolen, P. de Vries, C. Gilissen, and et al. Diagnostic exome sequencing in persons with severe intellectual disability N. Engl. J. Med. 367 2012 1921 1929
8. N.E. Mencacci, I. Rubio-Agusti, A. Zdebik, F. Asmus, M.H. Ludtmann, M. Ryten, V. Plagnol, A.K. Hauser, S. Bandres-Ciga, C. Bettencourt, and et al. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia Am. J. Hum. Genet. 96 2015 938 947
9. K. Wang, M. Li, and H. Hakonarson ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res. 38 2010 e164
10. M. Kircher, D.M. Witten, P. Jain, B.J. O'Roak, G.M. Cooper, and J. Shendure A general framework for estimating the relative pathogenicity of human genetic variants Nat. Genet. 46 2014 310 315
11. Exome Aggregation Consortium Analysis of protein-coding genetic variation in 60,706 humans bioRxiv 2015 10.1101/030338
12. B. Xu, I. Ionita-Laza, J.L. Roos, B. Boone, S. Woodrick, Y. Sun, S. Levy, J.A. Gogos, and M. Karayiorgou De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia Nat. Genet. 44 2012 1365 1369
13. S. Gulsuner, T. Walsh, A.C. Watts, M.K. Lee, A.M. Thornton, S. Casadei, C. Rippey, H. Shahin, V.L. Nimgaonkar, R.C. Go, et al. Consortium on the Genetics of Schizophrenia (COGS) PAARTNERS Study Group Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network Cell 154 2013 518 529
14. I. Iossifov, B.J. O'Roak, S.J. Sanders, M. Ronemus, N. Krumm, D. Levy, H.A. Stessman, K.T. Witherspoon, L. Vives, K.E. Patterson, and et al. The contribution of de novo coding mutations to autism spectrum disorder Nature 515 2014 216 221
15. Genome of NLD Consortium Whole-genome sequence variation, population structure and demographic history of the Dutch population Nat. Genet. 46 2014 818 825
16. A. Rauch, D. Wieczorek, E. Graf, T. Wieland, S. Endele, T. Schwarzmayr, B. Albrecht, D. Bartholdi, J. Beygo, N. Di Donato, and et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study Lancet 380 2012 1674 1682
17. S. Petrovski, Q. Wang, E.L. Heinzen, A.S. Allen, and D.B. Goldstein Genic intolerance to functional variation and the interpretation of personal genomes PLoS Genet. 9 2013 e1003709
18. K.E. Samocha, E.B. Robinson, S.J. Sanders, C. Stevens, A. Sabo, L.M. McGrath, J.A. Kosmicki, K. Rehnström, S. Mallick, A. Kirby, and et al. A framework for the interpretation of de novo mutation in human disease Nat. Genet. 46 2014 944 950
19. F. Sievers, A. Wilm, D. Dineen, T.J. Gibson, K. Karplus, W. Li, R. Lopez, H. McWilliam, M. Remmert, J. Söding, and et al. Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega Mol. Syst. Biol. 7 2011 539
20. D. Trabzuni, M. Ryten, R. Walker, C. Smith, S. Imran, A. Ramasamy, M.E. Weale, and J. Hardy Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies J. Neurochem. 119 2011 275 282
21. E.S. Lein, M.J. Hawrylycz, N. Ao, M. Ayres, A. Bensinger, A. Bernard, A.F. Boe, M.S. Boguski, K.S. Brockway, E.J. Byrnes, and et al. Genome-wide atlas of gene expression in the adult mouse brain Nature 445 2007 168 176
22. K. Fujishige, J. Kotera, and K. Omori Striatum- and testis-specific phosphodiesterase PDE10A isolation and characterization of a rat PDE10A Eur. J. Biochem. 266 1999 1118 1127
23. T.M. Coskran, D. Morton, F.S. Menniti, W.O. Adamowicz, R.J. Kleiman, A.M. Ryan, C.A. Strick, C.J. Schmidt, and D.T. Stephenson Immunohistochemical localization of phosphodiesterase 10A in multiple mammalian species J. Histochem. Cytochem. 54 2006 1205 1213
24. V. Lakics, E.H. Karran, and F.G. Boess Quantitative comparison of phosphodiesterase mRNA distribution in human brain and peripheral tissues Neuropharmacology 59 2010 367 374
25. J.A. Beavo, and L.L. Brunton Cyclic nucleotide research - still expanding after half a century Nat. Rev. Mol. Cell Biol. 3 2002 710 718
26. C. Steegborn Structure, mechanism, and regulation of soluble adenylyl cyclases - similarities and differences to transmembrane adenylyl cyclases Biochim. Biophys. Acta 1842 12 Pt B 2014 2535 2547
27. D. Koesling, E. Böhme, and G. Schultz Guanylyl cyclases, a growing family of signal-transducing enzymes FASEB J. 5 1991 2785 2791
28. S.H. Soderling, and J.A. Beavo Regulation of cAMP and cGMP signaling: new phosphodiesterases and new functions Curr. Opin. Cell Biol. 12 2000 174 179
29. A.T. Bender, and J.A. Beavo Cyclic nucleotide phosphodiesterases: molecular regulation to clinical use Pharmacol. Rev. 58 2006 488 520
30. C.C. Heikaus, J. Pandit, and R.E. Klevit Cyclic nucleotide binding GAF domains from phosphodiesterases: structural and mechanistic insights Structure 17 2009 1551 1557
31. M. Gross-Langenhoff, K. Hofbauer, J. Weber, A. Schultz, and J.E. Schultz cAMP is a ligand for the tandem GAF domain of human phosphodiesterase 10 and cGMP for the tandem GAF domain of phosphodiesterase 11 J. Biol. Chem. 281 2006 2841 2846
32. R. Jäger, C. Russwurm, F. Schwede, H.G. Genieser, D. Koesling, and M. Russwurm Activation of PDE10 and PDE11 phosphodiesterases J. Biol. Chem. 287 2012 1210 1219
33. J. Pandit, M.D. Forman, K.F. Fennell, K.S. Dillman, and F.S. Menniti Mechanism for the allosteric regulation of phosphodiesterase 2A deduced from the X-ray structure of a near full-length construct Proc. Natl. Acad. Sci. USA 106 2009 18225 18230
34. N. Handa, E. Mizohata, S. Kishishita, M. Toyama, S. Morita, T. Uchikubo-Kamo, R. Akasaka, K. Omori, J. Kotera, T. Terada, and et al. Crystal structure of the GAF-B domain from human phosphodiesterase 10A complexed with its ligand, cAMP J. Biol. Chem. 283 2008 19657 19664
35. K. Matthiesen, and J. Nielsen Binding of cyclic nucleotides to phosphodiesterase 10A and 11A GAF domains does not stimulate catalytic activity Biochem. J. 423 2009 401 409
36. E. Bollen, and J. Prickaerts Phosphodiesterases in neurodegenerative disorders IUBMB Life 64 2012 965 970
37. S. Appenzeller, A. Schirmacher, H. Halfter, S. Bäumer, M. Pendziwiat, V. Timmerman, P. De Jonghe, K. Fekete, F. Stögbauer, P. Lüdemann, and et al. Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene Am. J. Hum. Genet. 86 2010 83 87
38. O.G. Barsottini, Pde.M. Martins, H.F. Chien, S. Raskin, R.H. Nunes, A.J. da Rocha, and J.L. Pedroso Familial striatal degeneration: New mutation and neuroimaging clues Neurology 85 2015 1816 1818
39. T.A. Chappie, C.J. Helal, and X. Hou Current landscape of phosphodiesterase 10A (PDE10A) inhibition J. Med. Chem. 55 2012 7299 7331
40. C.D. Marsden The pathophysiology of movement disorders Neurol. Clin. 2 1984 435 459
41. S. Threlfell, and A.R. West Review: Modulation of striatal neuron activity by cyclic nucleotide signaling and phosphodiesterase inhibition Basal Ganglia 3 2013 137 146
42. D. Hervé Identification of a specific assembly of the G protein Golf as a critical and regulated module of dopamine and adenosine-activated cAMP pathways in the striatum Front. Neuroanat. 5 2011 48
43. K.W. Lee, J.H. Hong, I.Y. Choi, Y. Che, J.K. Lee, S.D. Yang, C.W. Song, H.S. Kang, J.H. Lee, J.S. Noh, and et al. Impaired D2 dopamine receptor function in mice lacking type 5 adenylyl cyclase J. Neurosci. 22 2002 7931 7940
44. T. Fuchs, R. Saunders-Pullman, I. Masuho, M.S. Luciano, D. Raymond, S. Factor, A.E. Lang, T.W. Liang, R.M. Trosch, S. White, and et al. Mutations in GNAL cause primary torsion dystonia Nat. Genet. 45 2013 88 92
45. Y.Z. Chen, M.M. Matsushita, P. Robertson, M. Rieder, S. Girirajan, F. Antonacci, H. Lipe, E.E. Eichler, D.A. Nickerson, T.D. Bird, and W.H. Raskind Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5 Arch. Neurol. 69 2012 630 635
46. N.E. Mencacci, R. Erro, S. Wiethoff, J. Hersheson, M. Ryten, B. Balint, C. Ganos, M. Stamelou, N. Quinn, H. Houlden, and et al. ADCY5 mutations are another cause of benign hereditary chorea Neurology 85 2015 80 88
47. Y.Z. Chen, J.R. Friedman, D.H. Chen, G.C. Chan, C.S. Bloss, F.M. Hisama, S.E. Topol, A.R. Carson, P.H. Pham, E.S. Bonkowski, and et al. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia Ann. Neurol. 75 2014 542 549
48. C. Russwurm, D. Koesling, and M. Russwurm Phosphodiesterase 10A Is Tethered to a Synaptic Signaling Complex in Striatum J. Biol. Chem. 290 2015 11936 11947
49. F. Niccolini, T. Foltynie, T. Reis Marques, N. Muhlert, A.C. Tziortzi, G.E. Searle, S. Natesan, S. Kapur, E.A. Rabiner, R.N. Gunn, and et al. Loss of phosphodiesterase 10A expression is associated with progression and severity in Parkinson's disease Brain 138 2015 3003 3015