Correction: Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing (Journal of Medical Genetics (2013) 50 (802-811) DOI: 10.1136/jmedgenet-2013-101644);Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

Journal of Medical Genetics

Volumn 50, Issue 12, 2013, Pages 802-811

  Schuurs Hoeijmakers, Janneke H M ^a,b   Vulto Van Silfhout, Anneke T ^a,c   Vissers, Lisenka E L M ^a,b   Van De Vondervoort, Ilse I G M ^a   Van Bon, Bregje W M ^a   De Ligt, Joep ^a,b   Gilissen, Christian ^a,b   Hehir Kwa, Jayne Y ^a,b   Neveling, Kornelia ^a,b   Del Rosario, Marisol ^a   Hira, Gausiya ^a   Reitano, Santina ^c   Vitello, Aurelio ^c   Failla, Pinella ^c   Greco, Donatella ^c   Fichera, Marco ^c,d   Galesi, Ornella ^a   Kleefstra, Tjitske ^a,b   Greally, Marie T ^e   Ockeloen, Charlotte W ^a   Willemsen, Marjolein H ^a,b   Bongers, Ernie M H F ^a,b   Janssen, Irene M ^a   Pfundt, Rolph ^a   Veltman, Joris A ^a,b   Romano, Corrado ^c   Willemsen, Michèl A ^a,f   Van Bokhoven, Hans ^a,b,f   Brunner, Han G ^a,b   De Vries, Bert B A ^a,f   De Brouwer, Arjan P M ^a,b,f   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c OASI RESEARCH INSTITUTE IRCCS   (Italy)

^d UNIVERSITY OF CATANIA   (Italy)

^e OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^f RADBOUD UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ARTICLE; AUTOSOME; EXOME; FAMILY; FAMILY SIZE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SIBLING; X CHROMOSOME;

GENETICS;

DNA MUTATIONAL ANALYSIS; EXOME; FAMILY; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; PEDIGREE;

EID: 84890207463     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101644corr1     Document Type: Erratum

References (41)

1. Leonard H, Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002;8:117-34.
2. Schalock RL, Borthwick-Duffy SA, Bradley VJ, Buntinx WHE, Coulter DL, Craig EM, Gomez SC, Reeve A, Shogren KA, Snell ME, Spreat S, Tassé MJ, Thompson JR, Verdugo-alonso MA, Yeager MH. AAIDD's 11th Edition of Intellectual Disability: Definition, Classification, and Systems of Support. 2012.
3. de Ligt J, Willemsen M, van Bon B, Kleefstra T, Yntema H, Kroes T, Vulto-Van Silfhout A, Koolen D, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries B, Brunner H, Veltman J, Vissers L. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med, 2012;367:1921-9.
4. 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. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012;380:1674-82.
5. de Brouwer AP, Yntema HG, Kleefstra T, Lugtenberg D, Oudakker AR, de Vries BB, van BH, Van EH, Frints SG, Froyen G, Fryns JP, Raynaud M, Moizard MP, Ronce N, Bensalem A, Moraine C, Poirier K, Castelnau L, Saillour Y, Bienvenu T, Beldjord C, Des Portes V, Chelly J, Turner G, Fullston T, Gecz J, Kuss AW, Tzschach A, Jensen LR, Lenzner S, Kalscheuer VM, Ropers HH, Hamel BC. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat 2007;28:207-8.
6. Bartley JA, Hall BD. Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similarly affected sibs of the proband. Birth Defects Orig Artic Ser 1978;14(6B):127-137.
7. Priest JH, Thuline HC, Laveck GD, Jarvis DB. An approach to genetic-factors in mental-retardation-studies of families containing at least 2 siblings admitted to a state institution for the retarded. Am J Ment Defic 1961;66:42-50.
8. Collins JS, Marvelle AF, Stevenson RE. Sibling recurrence in intellectual disability of unknown cause. Clin Genet 2011;79:498-500.
9. Turner G, Partington M. Recurrence risks in undiagnosed mental retardation. J Med Genet 2000;37:E45.
10. Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Puttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011;478:57-63.
11. Robinson JT, Thorvaldsdottir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP. Integrative genomics viewer. Nat Biotechnol 2011;29:24-6.
12. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000;132:365-86.
13. Klambauer G, Schwarzbauer K, Mayr A, Clevert DA, Mitterecker A, Bodenhofer U, Hochreiter S. cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate. Nucleic Acids Res 2012;40(9):e69.
14. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 2001;25:402-8.
15. Pfaffl MW. A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 2001;29:e45.
16. Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat 2009;30:1237-44.
17. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9.
18. Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjoholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Stromme P. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet 2008;82:1003-10.
19. Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet 2001;68:1497-500.
20. Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet 2006;119:604-10.
21. Rosenberg EH, Martinez MC, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, de Grauw TJ, Kleefstra T, Schwartz CE, Salomons GS. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum Mutat 2007;28:890-6.
22. Inoue H, Baba T, Sato S, Ohtsuki R, Takemori A, Watanabe T, Tagaya M, Tani K. Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p. Biochim Biophys Acta 2012;1823:930-9.
23. Sato S, Inoue H, Kogure T, Tagaya M, Tani K. Golgi-localized KIAA0725p regulates membrane trafficking from the Golgi apparatus to the plasma membrane in mammalian cells. FEBS Lett 2010;584:4389-95.
24. Blackstone C, O'Kane CJ, Reid E. Hereditary spastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci 2011;12:31-42.
25. Burgos PV, Mardones GA, Rojas AL, da Silva LL, Prabhu Y, Hurley JH, Bonifacino JS. Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex. Dev Cell 2010;18:425-36.
26. Murmu RP, Martin E, Rastetter A, Esteves T, Muriel MP, El Hachimi KH, Denora PS, Dauphin A, Fernandez JC, Duyckaerts C, Brice A, Darios F, Stevanin G. Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. Mol Cell Neurosci 2011;47:191-202.
27. Schuurs-hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-salem S, de Bot ST, Nijhof B, van de V II, van der Graaf M, Nobau AC, Otte-holler I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J, Consortium FC, Ali BR, Al-yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-gazali L, de Vries BB, de Brouwer AP. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet 2012;91:1073-81.
28. Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet 2004;36:411-16.
29. Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lutcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gecz J. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002;30:441-5.
30. Amir RE, Van Den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-8.
31. Kleefstra T, Yntema HG, Oudakker AR, Banning MJ, Kalscheuer VM, Chelly J, Moraine C, Ropers HH, Fryns JP, Janssen IM, Sistermans EA, Nillesen WN, de Vries LB, Hamel BC, van Bokhoven H. Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. J Med Genet 2004;41:394-9.
32. Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008;83:89-93.
33. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. Detection of large-scale variation in the human genome. Nat Genet 2004;36:949-51.
34. Shmueli O, Horn-saban S, Chalifa-caspi V, Shmoish M, Ophir R, Benjamin-rodrig H, Safran M, Domany E, Lancet D. GeneNote: whole genome expression profiles in normal human tissues. C R Biol 2003;326:1067-72.
35. Zhang X, Xu R, Zhu B, Yang X, Ding X, Duan S, Xu T, Zhuang Y, Han M. Syne-1 and Syne-2 play crucial roles in myonuclear anchorage and motor neuron innervation. Development 2007;134:901-8.
36. Gros-louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet 2007;39:80-5.
37. Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, Glick B, Nevo Y, Ben-neriah Z, Melki J. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet 2009;18:3462-9.
38. Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet 2003;73:1341-54.
39. Lugtenberg D, Yntema HG, Banning MJG, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Cecz J, van Reeuwijk J, Nabuurs SB, de Vries BBA, Hamel BCJ, de Brouwer APM, van Bokhoven H. ZNF674: a new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet 2006;78:265-78.
40. Najmabadi H, Motazacker MM, Garshasbi M, Kahrizi K, Tzschach A, Chen W, Behjati F, Hadavi V, Nieh SE, Abedini SS, Vazifehmand R, Firouzabadi SG, Jamali P, Falah M, Seifati SM, Gruters A, Lenzner S, Jensen LR, Ruschendorf F, Kuss AW, Ropers HH. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet 2007;121:43-8.
41. Siepel A, Pollard KS, Haussler D. New methods for detecting lineage-specific selection. In: Proceedings of the 10th International Conference on Research in Computational Molecular Biology (RECOMB). 2006:190-205.