Disturbed Wnt signalling due to a mutation in CCDC88C causes an autosomal recessive non-syndromic hydrocephalus with medial diverticulum

Molecular Syndromology

Volumn 1, Issue 3, 2010, Pages 99-112

  Ekici, A B ^a   Hilfinger, D ^a   Jatzwauk, M ^a   Thiel, C T ^a   Wenzel, D ^a   Lorenz, I ^a   Boltshauser, E ^e   Goecke, T W ^a   Staatz, G ^a   Morris Rosendahl, D J ^c   Sticht, H ^b   Hehr, U ^d   Reis, A ^a   Rauch, A ^a,f  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY OF REGENSBURG   (Germany)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^f UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Brain malformation; CCDC88C; Daple; Hydrocephalus; Wnt signalling

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DIVERTICULOSIS; ECHOGRAPHY; EXON; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; INTRON; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NON SYNDROMIC HYDROCEPHALUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

EID: 79952141035     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000319859     Document Type: Article

References (44)

1. Abecasis GR, Cherny SS, Cookson WO, Cardon LR: GRR: graphical representation of relationship errors. Bioinformatics 17: 742-743 (2001).
2. Bouchet C, Gonzales M, Vuillaumier-Barrot S, Devisme L, Lebizec C, et al: Molecular heterogeneity in fetal forms of type II lissencephaly. Hum Mutat 28: 1020-1027 (2007).
3. Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, Boncinelli E: Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 12: 94-96 (1996).
4. Cecchi C: Emx2 : a gene responsible for cortical development, regionalization and area specification. Gene 291: 1-9 (2002).
5. Chen G, Fernandez J, Mische S, Courey AJ: A functional interaction between the histone deacetylase Rpd3 and the corepressor groucho in Drosophila development. Genes Dev 13: 2218-2230 (1999).
6. Davidson G, Wu W, Shen J, Bilic J, Fenger U, et al: Casein kinase 1 gamma couples Wnt receptor activation to cytoplasmic signal transduction. Nature 438: 867-872 (2005).
7. Enomoto A, Ping J, Takahashi M: Girdin, a novel actin-binding protein, and its family of proteins possess versatile functions in the Akt and Wnt signaling pathways. Ann NY Acad Sci 1086: 169-184 (2006).
8. Furusawa T, Moribe H, Kondoh H, Higashi Y: Identification of CtBP1 and CtBP2 as corepressors of zinc finger-homeodomain factor deltaEF1. Mol Cell Biol 19: 8581-8590 (1999).
9. Garne E, Loane M, Addor MC, Boyd PA, Barisic I, Dolk H: Congenital hydrocephalus-prevalence, prenatal diagnosis and outcome of pregnancy in four European regions. Eur J Paediatr Neurol 14: 150-155 (2010).
10. Grana TM, Cox EA, Lynch AM, Hardin J: SAX-7/L1CAM and HMR-1/cadherin function redundantly in blastomere compaction and non-muscle myosin accumulation during Caenorhabditis elegans gastrulation. Dev Biol (2010).
11. Granata T, Farina L, Faiella A, Cardini R, D'Incerti L, Boncinelli E, Battaglia G: Familial schizencephaly associated with EMX2 mutation. Neurology 48: 1403-1406 (1997).
12. Gudbjartsson DF, Jonasson K, Frigge ML, Kong A: Allegro, a new computer program for multipoint linkage analysis. Nat Genet 25: 12-13 (2000).
13. Gudbjartsson DF, Thorvaldsson T, Kong A, Gunnarsson G, Ingolfsdottir A: Allegro version 2. Nat Genet 37: 1015-1016 (2005).
14. Hoffmann K, Lindner TH: easyLINKAGE-Plus-automated linkage analyses using large-scale SNP data. Bioinformatics 21: 3565-3567 (2005).
15. Hoffmans R, Stadeli R, Basler K: Pygopus and legless provide essential transcriptional coactivator functions to armadillo/betacatenin. Curr Biol 15: 1207-1211 (2005).
16. Ishitani T, Ninomiya-Tsuji J, Matsumoto K: Regulation of lymphoid enhancer factor 1/T-cell factor by mitogen-activated protein kinaserelated Nemo-like kinase-dependent phosphorylation in Wnt/beta-catenin signaling. Mol Cell Biol 23: 1379-1389 (2003).
17. Kobayashi H, Michiue T, Yukita A, Danno H, Sakurai K, et al: Novel Daple-like protein positively regulates both the Wnt/betacatenin pathway and the Wnt/JNK pathway in Xenopus . Mech Dev 122: 1138-1153 (2005).
18. Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domene S, et al: Clinical spectrum of SIX3- associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet 46: 389-398 (2009).
19. Leventer RJ, Guerrini R, Dobyns WB: Malformations of cortical development and epilepsy. Dialogues Clin Neurosci 10: 47-62 (2008).
20. Logan CY, Nusse R: The Wnt signaling pathway in development and disease. Annu Rev Cell Dev Biol 20: 781-810 (2004).
21. Mao B, Wu W, Davidson G, Marhold J, Li M, et al: Kremen proteins are Dickkopf receptors that regulate Wnt/beta-catenin signalling. Nature 417: 664-667 (2002).
22. Merello E, Swanson E, De Marco P, Akhter M, Striano P, et al: No major role for the EMX2 gene in schizencephaly. Am J Med Genet A 146A:1142-1150 (2008).
23. Muzio L, Soria JM, Pannese M, Piccolo S, Mallamaci A: A mutually stimulating loop involving emx2 and canonical wnt signalling specifically promotes expansion of occipital cortex and hippocampus. Cereb Cortex 15: 2021-2028 (2005).
24. O'Connell JR, Weeks DE: PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63: 259-266 (1998).
25. Oshita A, Kishida S, Kobayashi H, Michiue T, Asahara T, Asashima M, Kikuchi A: Identification and characterization of a novel Dvlbinding protein that suppresses Wnt signalling pathway. Genes Cells 8: 1005-1017 (2003).
26. Rampersaud E, Scott WK, Hauser ER, Speer MC: Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs. J Med Genet 42:e68 (2005).
27. Rattner A, Hsieh JC, Smallwood PM, Gilbert DJ, Copeland NG, Jenkins NA, Nathans J: A family of secreted proteins contains homology to the cysteine-rich ligand-binding domain of frizzled receptors. Proc Natl Acad Sci USA 94: 2859-2863 (1997).
28. Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, et al: Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 319: 816-819 (2008).
29. Rocheleau CE, Downs WD, Lin R, Wittmann C, Bei Y, et al: Wnt signaling and an APC-related gene specify endoderm in early C. elegans embryos. Cell 90: 707-716 (1997).
30. Rowitch DH, Danielian PS, McMahon AP, Zec N: Cystic malformation of the posterior cerebellar vermis in transgenic mice that ectopically express Engrailed-1, a homeodomain transcription factor. Teratology 60: 22-28 (1999).
31. Rozen S, Skaletsky H: Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132: 365-386 (2000).
32. Schageman JJ, Horton CJ, Niu S, Garner HR, Pertsemlidis A: ELXR: a resource for rapid exon-directed sequence analysis. Genome Biol 5:R36 (2004).
33. Schrander-Stumpel C, Fryns JP: Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling. Eur J Pediatr 157: 355-362 (1998).
34. Simon EM, Hevner RF, Pinter J, Clegg NJ, Delgado M, et al: The dorsal cyst in holoprosencephaly and the role of the thalamus in its formation. Neuroradiology 43: 787-791 (2001).
35. Sun Y, Kolligs FT, Hottiger MO, Mosavin R, Fearon ER, Nabel GJ: Regulation of betacatenin transformation by the p300 transcriptional coactivator. Proc Natl Acad Sci USA 97: 12613-12618 (2000).
36. Sylvester JB, Rich CA, Loh YH, van Staaden MJ, Fraser GJ, Streelman JT: Brain diversity evolves via differences in patterning. Proc Natl Acad Sci USA 107: 9718-9723 (2010).
37. Tago K, Nakamura T, Nishita M, Hyodo J, Nagai S, et al: Inhibition of Wnt signaling by ICAT, a novel beta-catenin-interacting protein. Genes Dev 14: 1741-1749 (2000).
38. Tapanes-Castillo A, Weaver EJ, Smith RP, Kamei Y, Caspary T, et al: A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice. Neurogenetics 11: 53-71 (2010).
39. Theil T, Aydin S, Koch S, Grotewold L, Ruther U: Wnt and Bmp signalling cooperatively regulate graded Emx2 expression in the dorsal telencephalon. Development 129: 3045-3054 (2002).
40. Thiele H, Nürnberg P: HaploPainter: a tool for drawing pedigrees with complex haplotypes. Bioinformatics 21: 1730-1732 (2005).
41. Vos YJ, de Walle HE, Bos KK, Stegeman JA, Ten Berge AM, et al: Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. J Med Genet 47: 169-175 (2010).
42. Weeks DE, Ott J, Lathrop GM: SLINK: a general simulation program for linkage analysis. Am J Hum Genet 47:A204 (1990).
43. Yost C, Farr GH 3rd, Pierce SB, Ferkey DM, Chen MM, Kimelman D: GBP, an inhibitor of GSK-3, is implicated in Xenopus development and oncogenesis. Cell 93: 1031-1041 (1998).
44. Zhang J, Williams MA, Rigamonti D: Genetics of human hydrocephalus. J Neurol 253: 1255-1266 (2006).