Novel VANGL1 gene mutations in 144 Slovakian, Romanian and German patients with neural tube defects

Molecular Syndromology

Volumn 3, Issue 2, 2012, Pages 76-81

  Bartsch, O ^a   Kirmes, I ^a   Thiede, A ^a   Lechno, S ^a   Gocan, H ^c   Florian, I S ^d   Haaf, T ^b   Zechner, U ^a   Sabova, L ^e   Horn, F ^f  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c Department of Pediatric Surgery ^*  (Germany)

^d IULIU HATIEGANU UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^e Second Department of Pediatrics   (Slovakia)

^f Faculty of Natural Sciences   (Slovakia)

Author keywords

Mutational hot spots; Neural tube defects; Planar cell polarity pathway; VANGL1

Indexed keywords

ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GERMANY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MENINGOMYELOCELE; MISSENSE MUTATION; NEURAL TUBE DEFECT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; ROMANIA; SIBLING; SLOVAKIA; SPINA BIFIDA; SPINAL LIPOMA; TETHERED CORD SYNDROME; VANGL1 GENE;

EID: 84865329068     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000339668     Document Type: Article

References (16)

1. Bassuk A, Kibar A: Genetic basis of neural tube defects. Semin Pediatr Neurol 16: 101-110 (2009).
2. Botto L, Moore C, Khour M, Erickson J: Neuraltube defects. N Engl J Med 341: 1509-1519 (1999).
3. Copp A, Greene N, Murdoch J: The genetic basis of mammalian neurulation. Nat Rev Genet 4: 784-793 (2003).
4. Gravel M, Iliescu A, Horth C, Apuzzo S, Gros P: Molecular and cellular mechanisms underlying neural tube defects in the loop-tail mutant mouse. Biochemistry 49: 3445-3455 (2010).
5. Guyot M, Bosoi C, Kharfallah F, Reynolds A, Drapeau P, et al: A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene. Dev Dyn 240: 839-849 (2011).
6. Harris MJ, Juriloff DM: An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure. Birth Defects Res A Clin Mol Teratol 88: 653-669 (2010).
7. Iliescu A, Gravel M, C Horth, Kibar Z, Gros P: Loss of membrane targeting of Vangl proteins causes neural tube defects. Biochemistry 50: 795-804 (2011).
8. Kibar Z, Vogan K, Groulx N, Justice M, Underhill D, Gros P: Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube defect mutant Loop-tail. Nat Genet 28: 251-255 (2001).
9. Kibar Z, Torban E, McDearmid J, Reynolds A, Berghout J, et al: Mutations in VANGL1 are associated with neural tube defects in humans. New Engl J Med 356: 1432-1437 (2007).
10. Kibar Z, Bosoi C, Kooistra M, Salem S, Finnell R, et al: Novel mutations in VANGL1 in neural tube defects. Hum Mutat 30: 706-715 (2009).
11. Kibar Z, Salem S, Bosoi C, Pauwels E, De Marco P, et al: Contribution of VANGL2 mutations to isolated neural tube defects. Clin Genet 80: 76-82 (2011).
12. Record RG, McKeown T: Congenital malformations of the central nervous system. III. Risk of malformation in sibs of malformed individuals. Br J Soc Med 4: 217-220 (1950).
13. Reynolds A, McDearmid J, Lachance S, De Marco P, Merello E, et al: VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish. Mech Dev 127: 385-392 (2010).
14. Schwarz J, Rödelsperger C, Schuelke M, Seelow D: MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7: 575-576 (2010).
15. Simons M, Mlodzik M: Planar cell polarity signaling: from fly development to human disease. Annu Rev Genet 42: 517-540 (2008).
16. Torban E, Patenaude A, Leclerc S, Rakowiecki S, Gauthier S, et al: Genetic interaction between members of the Vangl family causes neural tube defects in mice. Proc Natl Acad Sci USA 105: 3449-3454 (2008).