The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with Autism

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 166, Issue 3, 2014, Pages 315-326

  Vandeweyer, Geert ^a   Helsmoortel, Céline ^a   VanDijck , Anke ^b   Vulto Van Silfhout, Anneke T ^c   Coe, Bradley P ^d   Bernier, Raphael ^d   Gerdts, Jennifer ^d   Rooms, Liesbeth ^c   Van Den Ende, Jenneke ^c   Bakshi, Madhura ^e   Wilson, Meredith ^e   Nordgren, Ann ^f   Hendon, Laura G ^g   Abdulrahman, Omar A ^g   Romano, Corrado ^h   De Vries, Bert B A ^c   Kleefstra, Tjitske ^c   Eichler, Evan E ^d,i   Van Der Aa, Nathalie ^a   Frank Kooy, R ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF WASHINGTON   (United States)

^e Childrens Hospital at Westmead   (United States)

^f KAROLINSKA INSTITUTE   (Sweden)

^g UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

^h OASI RESEARCH INSTITUTE IRCCS   (Italy)

ⁱ HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

ADNP; Autism; BAF complexes; SWI SNF

Indexed keywords

BAF COMPLEX; DAVUNETIDE; OCTAPEPTIDE; PROTEIN SWI; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SNF; UNCLASSIFIED DRUG; ADNP PROTEIN, HUMAN; ADNP PROTEIN, MOUSE; DNA HELICASE; HOMEODOMAIN PROTEIN; NERVE PROTEIN; NUCLEAR PROTEIN; OLIGOPEPTIDE; SMARCA2 PROTEIN, HUMAN; SMARCA4 PROTEIN, HUMAN;

ADNP GENE; AMINO ACID SEQUENCE; ARTICLE; AUTISM; CARBOXY TERMINAL SEQUENCE; CLINICAL ASSESSMENT; COGNITIVE DEFECT; GAIN OF FUNCTION MUTATION; GENE INTERACTION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; KNOCKOUT MOUSE; MUTATOR GENE; NONHUMAN; SYMPTOMATOLOGY; ABNORMALITIES; ANIMAL; AUTISTIC DISORDER; FACE; GENETICS; HAND MALFORMATION; INFANT; INTELLECTUAL IMPAIRMENT; METABOLISM; MICROGNATHIA; MULTIPLE MALFORMATION SYNDROME; MUTATION; NECK; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; ANIMALS; AUTISTIC DISORDER; CHILD, PRESCHOOL; DNA HELICASES; FACE; HAND DEFORMITIES, CONGENITAL; HAPLOINSUFFICIENCY; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INTELLECTUAL DISABILITY; MICE, KNOCKOUT; MICROGNATHISM; MUTATION; NECK; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; OLIGOPEPTIDES; TRANSCRIPTION FACTORS;

EID: 84908641727     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31413     Document Type: Article

References (55)

1. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23:185-188.
2. APA. 2013. American Psychiatric Association: Diagnostic and statistical manual of mental disorders DSM-V. 5th edition, Text revision Washington DC: American Psychiatric Association.
3. Bassan M, Zamostiano R, Davidson A, Pinhasov A, Giladi E, Perl O, Bassan H, Blat C, Gibney G, Glazner G, Brenneman DE, Gozes I. 1999. Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide. J Neurochem 72:1283-1293.
4. Carter MT, Scherer SW. 2013. Autism spectrum disorder in the genetics clinic: A review. Clin Genet 83:399-407.
5. Crabbe JC, Wahlsten D, Dudek BC. 1999. Genetics of mouse behavior: Interactions with laboratory environment. Science (New York, NY) 284:1670-1672.
6. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. 2012. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921-1929.
7. Dresner E, Agam G, Gozes I. 2011. Activitydependent neuroprotective protein (ADNP) expression level is correlated with the expression of the sister protein ADN P2: Deregulation in schizophrenia. Eur Neuropsychopharmacol 21:355-361.
8. ESP, NGESP. Exome Variant Server. Folstein S, Rutter M. 1977. Genetic influences and infantile autism. Nature 265:726-728.
9. Furman S, Steingart RA, Mandel S, Hauser JM, Brenneman DE, Gozes I. 2004. Subcellular localization and secretion of activity-dependent neuroprotective protein in astrocytes. Neuron Glia Biol 1:193-199.
10. Gennet N, Herden C, Bubb VJ, Quinn JP, Kipar A. 2008. Expression of activity-dependent neuroprotective protein in the brain of adult rats. Histol Histopathol 23:309-317.
11. Gozes I. 2011. Microtubules, schizophrenia and cognitive behavior: Preclinical development of davunetide (NAP) as a peptide-drug candidate. Peptides 32:428-431.
12. Gozes I, Giladi E, Pinhasov A, Bardea A, Brenneman DE. 2000a. Activity-dependent neurotrophic factor: Intranasal administration of femtomolar-acting peptides improve performance in a water maze. J Pharmacol Exp Ther 293:1091-1098.
13. Gozes I, Morimoto BH, Tiong J, Fox A, Sutherland K, Dangoor D, Holser-Cochav M, Vered K, Newton P, Aisen PS, Matsuoka Y, van Dyck CH, Thal L. 2005. NAP: Research and development of a peptide derived from activity-dependent neuroprotective protein (ADNP). CNS Drug Rev 11:353-368.
14. Gozes I, Schirer Y, Idan-Feldman A, David M, Furman-Assaf S. 2014. NAP Alpha-Aminoisobutyric Acid (IsoNAP). J Mol Neurosci 52:1-9.
15. Gozes I, Steingart RA, Spier AD. 2004. NAP mechanisms of neuroprotection. J Mol Neurosci 24:67-72.
16. Gozes I, Zamostiano R, Pinhasov A, Bassan M, Giladi E, Steingart RA, Brenneman DE. 2000b. A novel VIP responsive gene. Activity dependent neuroprotective protein. Ann N Y Acad Sci 921:115-118.
17. Helsmoortel C, Vandeweyer G, Ordoukhanian P, Van Nieuwerburgh F, Van der Aa N, Kooy RF. 2014a. Challenges and opportunities in the investigation of unexplained intellectual disability using family based whole exome sequencing. Clinical genetics: Clin Genet 2014 Aug 2011. doi: 2010.1111/cge.12470.
18. Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Anneren G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. 2014b. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet 46:380-384.
19. Ho L, Crabtree GR. 2010. Chromatin remodelling during development. Nature 463:474-484.
20. Kervestin S, Jacobson A. 2012. NMD: A multifaceted response to premature translational termination. Nat Rev Mol Cell Biol 13:700-712.
21. Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. 2014. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46:310-315.
22. Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Matsumoto N. 2013. Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a reviewof the literature. Am J Med Genet 161A:1221-1237.
23. Krumm N, O'Roak BJ, Shendure J, Eichler EE. 2014. A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci 37:95-105.
24. Leker RR, Teichner A, Grigoriadis N, Ovadia H, Brenneman DE, Fridkin M, Giladi E, Romano J, Gozes I. 2002. NAP, a femtomolar-acting peptide, protects the brain against ischemic injury by reducing apoptotic death. Stroke 33:1085-1092.
25. Lessard J, Wu JI, Ranish JA, Wan M, Winslow MM, Staahl BT, Wu H, Aebersold R, Graef IA, Crabtree GR. 2007. An essential switch in subunit composition of a chromatin remodeling complex during neural development. Neuron 55:201-215.
26. Magen I, Gozes I. 2014. Davunetide: Peptide therapeutic in neurological disorders. Curr Med Chem 21:2591-2598.
27. Mandel S, Gozes I. 2007. Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex. J Biol Chem 282:34448-34456.
28. Mandel S, Rechavi G, Gozes I. 2007. Activitydependent neuroprotective protein (ADNP) differentially interacts with chromatin to regulate genes essential for embryogenesis. Dev Biol 303:814-824.
29. Mandel S, Spivak-Pohis I, Gozes I. 2008. ADNP differential nucleus/cytoplasm localization in neurons suggests multiple roles in neuronal differentiation and maintenance. J Mol Neurosci 35:127-141.
30. Mendelsohn NJ, Schaefer GB. 2008. Genetic evaluation of autism. Semin Pediatr Neurol 15:27-31.
31. Mosch K, Franz H, Soeroes S, Singh PB, Fischle W. 2011. HP1 recruits activity-dependent neuroprotective protein to H3K9me3 marked pericentromeric heterochromatin for silencing of major satellite repeats. PloS One 6: e15894.
32. O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J. 2012a. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (New York, NY) 338:1619-1622.
33. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. 2012b. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485:246-250.
34. Oz S, Ivashko-Pachima Y, Gozes I. 2012. The ADNP derived peptide, NAP modulates the tubulin pool: Implication for neurotrophic and neuroprotective activities. PloS One 7: e51458.
35. Pinhasov A, Mandel S, Torchinsky A, Giladi E, Pittel Z, Goldsweig AM, Servoss SJ, Brenneman DE, Gozes I. 2003. Activity-dependent neuroprotective protein: A novel gene essential for brain formation. Brain Res Dev Brain Res 144:83-90.
36. Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceicao IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Roge B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jimenez Gonzalez P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Cafe C, Brennan S, Bourgeron T, Bolton PF, Bolte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW. 2014. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 94:677-694.
37. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C. 2010. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466:368-372.
38. Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Ropke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schrock E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. 2012. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study. Lancet 380:1674-1682.
39. Ronan JL, Wu W, Crabtree GR. 2013. From neural development to cognition: Unexpected roles for chromatin. Nat Rev Genet 14:347-359.
40. Rooms L, Kooy RF. 2011. Advances in understanding fragile X syndrome and related disorders. Curr Opin Pediatr 23:601-606.
41. Said SI. 1996. Molecules that protect: The defense of neurons and other cells. J Clin Invest 97:2163-2164.
42. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Gunel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW. 2011. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70:863-885.
43. Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A. 2014. The familial risk of autism. JAMA 311:1770-1777.
44. Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van derWielen MJ, Vollebregt MJ, Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ, Almureikhi M, Baban A, Barbosa M, Ben-Omran T, Berry K, Bigoni S, Boute O, Brueton L, van der Burgt I, Canham N, Chandler KE, Chrzanowska K, Collins AL, de Toni T, Dean J, den Hollander NS, Flore LA, Fryer A, Gardham A, Graham JM JR, Harrison V, Horn D, Jongmans MC, Josifova D, Kant SG, Kapoor S, Kingston H, Kini U, Kleefstra T, Krajewska-Walasek M, Kramer N, Maas SM, Maciel P, Mancini GM, Maystadt I, McKee S, Milunsky JM, Nampoothiri S, Newbury-Ecob R, Nikkel SM, Parker MJ, Perez-Jurado LA, Robertson SP, Rooryck C, Shears D, Silengo M, Singh A, Smigiel R, Soares G, Splitt M, Stewart H, Sweeney E, Tassabehji M, Tuysuz B, van Eerde M, Vincent-Delorme C, Wilson LC, Yesil G. 2013. Coffin-Siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients. Hum Mutat 34:1519-1528.
45. Steffenburg S, Gillberg C, Hellgren L, Andersson L, Gillberg IC, Jakobsson G, Bohman M. 1989. A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry 30:405-416.
46. Surveillance DDMN. 2014. Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill Summ 63:1-21.
47. Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. 2012. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet 44:376-378.
48. Veltman JA, Brunner HG. 2012. De novo mutations in human genetic disease. Nat Rev Genet 13:565-575.
49. Vissers LELM, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. 2010. A de novo paradigm for mental retardation. Nat Genet 42:1109-1112.
50. von Mering C, Jensen LJ, Kuhn M, Chaffron S, Doerks T, Kruger B, Snel B, Bork P. 2007. STRING 7-recent developments in the integration and prediction of protein interactions. Nucleic Acids Res 35(Database issue):D358-362.
51. Vulih-Shultzman I, Pinhasov A, Mandel S, Grigoriadis N, Touloumi O, Pittel Z, Gozes I. 2007. Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model. J Pharmacol Exp Ther 323:438-449.
52. Wahlsten D, Rustay NR, Metten P, Crabbe JC. 2003. In search of a better mouse test. Trends Neurosci 26:132-136.
53. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. 2013. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med 369:1502-1511.
54. Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K. et al. 2013. Using whole-exome sequencing to identify inherited causes of autism. Neuron 77:259-273.
55. Zamostiano R, Pinhasov A, Gelber E, Steingart RA, Seroussi E, Giladi E, Bassan M, Wollman Y, Eyre HJ, Mulley JC, Brenneman DE, Gozes I. 2001. Cloning and characterization of the human activity-dependent neuroprotective protein. J Biol Chem 276:708-714.