A human laterality disorder associated with recessive CCDC11 mutation

Journal of Medical Genetics

Volumn 49, Issue 6, 2012, Pages 386-390

  Perles, Zeev ^a   Cinnamon, Yuval ^a   Ta Shma, Asaf ^a   Shaag, Avraham ^a   Einbinder, Tom ^a   Rein, Azaria J J T ^a   Elpeleg, Orly ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN INFARCTION; CASE REPORT; CAVOPULMONARY CONNECTION; CCDC11 GENE; CLUBBING FINGERS; CONGENITAL HEART DISEASE; CONGENITAL HEART MALFORMATION; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CYANOSIS; DEEP VEIN THROMBOSIS; ECHOCARDIOGRAPHY; FATIGUE; FIBROBLAST; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GLENN SHUNT; HETEROTAXY SYNDROME; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MUTATIONAL ANALYSIS; OXYGEN SATURATION; PHENOTYPE; POSTOPERATIVE COMPLICATION; PRIORITY JOURNAL; RECESSIVE GENE; SIBLING; SITUS INVERSUS TOTALIS; SYSTOLIC HEART MURMUR;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, WESTERN; CHROMOSOME MAPPING; CONSANGUINITY; FIBROBLASTS; GENES, RECESSIVE; HETEROTAXY SYNDROME; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RNA; SEQUENCE ANALYSIS, DNA; SITUS INVERSUS;

EID: 84864080887     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100457     Document Type: Article

References (37)

1. Levin M. Left-right asymmetry in embryonic development: a comprehensive review. Mech Development 2005;122:3-25.
2. Perloff JK. The cardiac malpositions. Am J Cardiol 2011;108:1352-61.
3. Brueckner M. Heterotaxia, congenital heart disease, and primary ciliary dyskinesia. Circulation 2007;115:2793-5.
4. Bartram U, Wirbelauer J, Speer CP. Heterotaxy syndromedasplenia and polysplenia as indicators of visceral malposition and complex congenital heart disease. Biol Neonate 2005;88:278-90.
5. Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med 2009;11:473-87.
6. Bataille S, Demoulin N, Devuyst O, Audrézet MP, Dahan K, Godin M, Fonte's M, Pirson Y, Burtey S. Association of PKD2 (polycystin 2) mutations with left-right laterality defects. Am J Kidney Dis 2011;58:456-60.
7. Afzelius BA. A human syndrome caused by immotile cilia. Sci (New York, NY) 1976;193:317-19.
8. Nonaka S, Tanaka Y, Okada Y, Takeda S, Harada A, Kanai Y, Kido M, Hirokawa N. Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell 1998;95:829-37.
9. Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV, Minnix SL, Olbrich H, Severin T, Ahrens P, Lange L, Morillas HN, Noone PG, Zariwala MA, Knowles MR. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 2007;115:2814-21.
10. Santamaria F, de Santi MM, Grillo G, Sarnelli P, Caterino M, Greco L. Ciliary motility at light microscopy: a screening technique for ciliary defects. Acta Paediatr 1999;88:853-7.
11. Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet 2007;81:857-62.
12. Seelow D, Schwarz JM, Schuelke M. Genedistilleredistilling candidate genes from linkage intervals. PloS One 2008;3:-3874.
13. Gherman A, Davis EE, Katsanis N. The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet 2006;38:961-2.
14. Hayes JM, Kim SK, Abitua PB, Park TJ, Herrington ER, Kitayama A, Grow MW, Ueno N, Wallingford JB. Identification of novel ciliogenesis factors using a new in vivo model for mucociliary epithelial development. Dev Biol 2007;312:115-30.
15. Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010;7:575-6.
16. Sutherland MJ, Ware SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet Semin Med Genet 2009;151C:307-17.
17. Tabin CJ. The key to left-right asymmetry. Cell 2006;127:27-32.
18. Brennan J, Norris DP, Robertson EJ. Nodal activity in the node governs left-right asymmetry. Genes Dev 2002;16:2339-44.
19. McGrath J, Brueckner M. Cilia are at the heart of vertebrate left-right asymmetry. Curr Opin Genet Dev 2003;13:385-92.
20. Tabin CJ, Vogan KJ. A two-cilia model for vertebrate left-right axis specification. Genes Dev 2003;17:1-6.
21. Ross AJ, Dailey LA, Brighton LE, Devlin RB. Transcriptional profiling of mucociliary differentiation in human airway epithelial cells. Am J Respir Cell Mol Biol 2007;37:169-85.
22. Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 2004;74:93-105.
23. D'Alessandro LCA, Casey B, Siu VM. Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy. Congenit Heart Dis. Published Online First: 16 December 2011. doi:10.1111/j.1747-0803.2011.00602.x
24. Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet 2009;18:861-71.
25. Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers P, Towbin JA, Casey B. Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am J Med Genet 1999;82:70-6.
26. Bamford RN, Roessler E, Burdine RD, Saplakoǧlu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet 2000;26:365-9.
27. Ware SM, Harutyunyan KG, Belmont JW. Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway. Dev Dyn 2006;235:1631e7.
28. Swisher M, Jonas R, Tian X, Lee ES, Lo CW, Leatherbury L. Increased postoperative and respiratory complications in patients with congenital heart disease associated with heterotaxy. J Thorac Cardiovasc Surg 2011;141:637e44, 644-1e3.
29. Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Lequarré AS, Katsanis N, Omran H, Amselem S. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 2011;43:72-8.
30. Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet 2011;43:79-84.
31. Zheng Y, Zhang J, Wang L, Zhou Z, Xu M, Li J, Sha JH. Cloning and characterization of a novel sperm tail protein, NYD-SP28. Int J Mol Med 2006;18:1119-25.
32. Mahjoub MR, Xie Z, Stearns T. Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly. J Cell Biol 2010;191:331-46.
33. Yang Y, Cochran DA, Gargano MD, King I, Samhat NK, Burger BP, Sabourin KR, Hou Y, Awata J, Parry DA, Marshall WF, Witman GB, Lu X. Regulation of flagellar motility by the conserved flagellar protein CG34110/Ccdc135/FAP50. Mol Biol Cell 2011;22:976-87.
34. Ekici AB, Hilfinger D, Jatzwauk M, Thiel CT, Wenzel D, Lorenz I, Boltshauser E, Goecke TW, Staatz G, Morris-Rosendahl DJ, Sticht H, Hehr U, Reis A, Rauch A. Disturbed Wnt signalling due to a mutation in CCDC88C causes an autosomal recessive non-syndromic hydrocephalus with medial diverticulum. Mol Syndromol 2010;1:99-112.
35. Modamio-Hoybjor S, Mencia A, Goodyear R, del Castillo I, Richardson G, Moreno F, Moreno-Pelayo MA. A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss. Am J Hum Genet 2007;80:1076-89.
36. Zhou J, Qiao X, Xiao L, Sun W, Wang L, Li H, Wu Y, Ding X, Hu X, Zhou C, Zhang J. Identification and characterization of the novel protein CCDC106 that interacts with p53 and promotes its degradation. FEBS Lett 2010;584:1085-90.
37. Yin W, Rossin A, Clifford JL, Gronemeyer H. Co-resistance to retinoic acid and TRAIL by insertion mutagenesis into RAM. Oncogene 2006;25:3735-44.