Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 94, Issue 3, 2012, Pages 176-181

  Allache, Redouane ^a   De Marco, Patrizia ^b   Merello, Elisa ^b   Capra, Valeria ^b   Kibar, Zoha ^a  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

Candidate gene; Caudal agenesis; CELSR1; Neural tube defects; Planar cell polarity pathway; Sequencing analysis

Indexed keywords

CADHERIN; CADHERIN EGF LAG SEVEN PASS G TYPE RECEPTOR1 3; UNCLASSIFIED DRUG;

ARTICLE; CAUDAL AGENESIS; CELL POLARITY; COMPUTER MODEL; DATA BASE; EXON; GENE; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEURAL TUBE DEFECT; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN FUNCTION; PROTEIN MOTIF; PROTEIN PHOSPHORYLATION; RISK FACTOR; SEQUENCE ANALYSIS; SPINAL CORD MALFORMATION;

AMINO ACID SEQUENCE; ANIMALS; CADHERINS; CANADA; CELL POLARITY; COHORT STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ITALY; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NEURAL TUBE DEFECTS; SEQUENCE ANALYSIS, DNA; SPINE;

ANIMALIA;

EID: 84858254987     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23002     Document Type: Article

References (22)

1. Aslan H, Yanik H, Celikaslan N, et al. 2001. Prenatal diagnosis of caudal regression syndrome: a case report. BMC Pregnancy Childbirth 1: 8.
2. Bassuk AG, Kibar Z. 2009. Genetic basis of neural tube defects. Semin Pediatr Neurol 16: 101-110.
3. Bosoi CM, Capra V, Allache R, et al. 2011. Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. Hum Mutat 32: 1371-1375.
4. Chen WS, Antic D, Matis M, et al. 2008. Asymmetric homotypic interactions of the atypical cadherin flamingo mediate intercellular polarity signaling. Cell 133: 1093-1105.
5. Curtin JA, Quint E, Tsipouri V, et al. 2003. Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. Curr Biol 13: 1129-1133.
6. De Marco P, Merello E, Rossi A, et al. 2012. FZD6 is a novel gene for human neural tube defects. Hum Mutat 33: 384-390.
7. Detrait ER, George TM, Etchevers HC, et al. 2005. Human neural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicol Teratol 27: 515-524.
8. Formstone CJ, Mason I. 2005. Combinatorial activity of Flamingo proteins directs convergence and extension within the early zebrafish embryo via the planar cell polarity pathway. Dev Biol 282: 320-335.
9. Kibar Z, Bosoi CM, Kooistra M, et al. 2009. Novel mutations in VANGL1 in neural tube defects. Hum Mutat 30: E706-715.
10. Kibar Z, Salem S, Bosoi CM, et al. 2011. Contribution of VANGL2 mutations to isolated neural tube defects. Clin Genet 80: 76-82.
11. Kibar Z, Torban E, McDearmid JR, et al. 2007. Mutations in VANGL1 associated with neural-tube defects. N Engl J Med 356: 1432-1437.
12. Robinson A, Escuin S, Doudney K, et al. 2012. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat 33: 440-447.
13. Rossi A, Cama A, Piatelli G, et al. 2004. Spinal dysraphism: MR imaging rationale. J Neuroradiol 31: 3-24.
14. Rossi A, Gandolfo C, Morana G, et al. 2006. Current classification and imaging of congenital spinal abnormalities. Semin Roentgenol 41: 250-273.
15. Seo JH, Zilber Y, Babayeva S, et al. 2011. Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. Hum Mol Genet 20: 4324-4333.
16. Stenson PD, Mort M, Ball EV, et al. 2009. The Human Gene Mutation Database: 2008 update. Genome Med 1: 13.
17. Takeichi M. 2007. The cadherin superfamily in neuronal connections and interactions. Nat Rev Neurosci 8: 11-20.
18. Tissir F, De-Backer O, Goffinet AM, et al. 2002. Developmental expression profiles of Celsr (Flamingo) genes in the mouse. Mech Dev 112: 157-160.
19. Tobin AB, Butcher AJ, Kong KC. 2008. Location, location, location... site-specific GPCR phosphorylation offers a mechanism for cell-type-specific signalling. Trends Pharmacol Sci 29: 413-420.
20. Tortori-Donati P, Rossi A, Cama A. 2000. Spinal dysraphism: a review of neuroradiological features with embryological correlations and proposal for a new classification. Neuroradiology 42: 471-491.
21. Usui T, Shima Y, Shimada Y, et al. 1999. Flamingo, a seven-pass transmembrane cadherin, regulates planar cell polarity under the control of Frizzled. Cell 98: 585-595.
22. Wen S, Zhu H, Lu W, et al. 2010. Planar cell polarity pathway genes and risk for spina bifida. Am J Med Genet A 152A: 299-304.