Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 94, Issue 11, 2012, Pages 925-933

  Nasser, Entessar ^a   Mangold, Elisabeth ^a   Tradowsky, Daniela C ^a   Fier, Heide ^a,b   Becker, Jessica ^a   Boehmer, Anne C ^a   Herberz, Ruth ^a   Fricker, Nadine ^a   Barth, Sandra ^a   Wahle, Philipp ^a   Nowak, Stefanie ^a   Reutter, Heiko ^a   Reich, Rudolf H ^a   Lauster, Carola ^c   Braumann, Bert ^d   Kreusch, Thomas ^e   Hemprich, Alexander ^f   Pötzsch, Bernd ^a   Hoffmann, Per ^a   Kramer, Franz Josef ^g   Knapp, Michael ^a   Lange, Christoph ^a,b   Nöthen, Markus M ^a   Ludwig, Kerstin U ^a   more..

^a UNIVERSITY OF BONN   (Germany)

^b HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^c HUMBOLDT UNIVERSITY   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e Asklepios Klinik Nord Heidberg   (Germany)

^f UNIVERSITY OF LEIPZIG   (Germany)

^g UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

Cosegregation; Orofacial clefting; Rare mutation; SNP

Indexed keywords

HOMEODOMAIN PROTEIN; UNCLASSIFIED DRUG; VENTRAL ANTERIOR HOMEOBOX 1 PROTEIN;

5' UNTRANSLATED REGION; ARTICLE; BIOINFORMATICS; CLEFT LIP PALATE; COMPUTER MODEL; CONTROLLED STUDY; EXON; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NONSYNDROMIC CLEFT LIP PALATE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; AMINO ACID SEQUENCE; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 10; CLEFT LIP; CLEFT PALATE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC LOCI; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ISOFORMS; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84869406506     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23078     Document Type: Article

References (32)

1. Beaty TH, Murray JC, Marazita ML, et al. 2010. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet 42: 525-529.
2. Birnbaum S, Ludwig KU, Reutter H, et al. 2009. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 41: 473-477.
3. den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15: 7-12.
4. Duan J, Wainwright MS, Comeron JM, et al. 2003. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet 12: 205-216.
5. Gehring WJ. 1987. Homeo boxes in the study of development. Science 236: 1245-1252.
6. Grant SF, Wang K, Zhang H, et al. 2009. A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. J Pediatr 155: 909-913.
7. Hallonet M, Hollemann T, Pieler T, et al. 1999. Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system. Genes Dev 13: 3106-3114.
8. Hamilton SP, Woo JM, Carlson EJ, et al. 2005. Analysis of four DLX homeobox genes in autistic probands. BMC Genet 6: 52.
9. Hansen TV, Steffensen AY, Jønson L, et al. 2010. The silent mutation nucleotide 744 G -> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping. Breast Cancer Res Treat 119: 547-550.
10. Hombría JC, Lovegrove B. 2003. Beyond homeosis-HOX function in morphogenesis and organogenesis. Differentiation 71: 461-476.
11. Jugessur A, Farlie PG, Kilpatrick N. 2009. The genetics of isolated orofacial clefts: from genotypes to subphenotypes. Oral Dis 15: 437-453.
12. Li B, Leal SM. 2009. Discovery of rare variants via sequencing: implications for the design of complex trait association studies. PLoS Genet 5: e1000481.
13. Madsen BE, Browning SR. 2009. A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet 5: e1000384.
14. Mangold E, Ludwig KU, Birnbaum S, et al. 2010. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet 42: 24-26.
15. Mangold E, Ludwig KU, Nöthen MM. 2011. Breakthroughs in the genetics of orofacial clefting. Trends Mol Med 17: 725-733.
16. Mossey PA, Little J. 2002. Epidemiology of oral clefts: an international perspective. In: Wyszynski DF, editor. Cleft lip and palate: from origin to treatment. Oxford: Oxford University Press. pp. 127-144.
17. Mostowska A, Hozyasz KK, Wojcicka K, et al. 2012. Polymorphic variants at 10q25.3 and 17q22 loci and the risk of non-syndromic cleft lip and palate in the Polish population. Birth Defects Res A Clin Mol Teratol 94: 42-46.
18. Mühleisen TW, Basmanav FB, Forstner AJ, et al. 2011. Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients. Schizophr Res 127: 35-40.
19. Nikopensius T, Birnbaum S, Ludwig KU, et al. 2010. Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients. Eur J Oral Sci 118: 317-319.
20. Ohsaki K, Morimitsu T, Ishida Y, et al. 1999. Expression of the Vax family homeobox genes suggests multiple roles in eye development. Genes Cells 4: 267-276.
21. Ott J. 1989. Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci U S A 86: 4175-4178.
22. Pan Y, Ma J, Zhang W, et al. 2011. Replication of two novel susceptibility loci for non-syndromic orofacial clefts in a Chinese population. Oral Dis 17: 304-308.
23. Rahimov F, Marazita ML, Visel A, et al. 2008. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet 40: 1341-1347.
24. Rojas-Martinez A, Reutter H, Chacon-Camacho O, et al. 2010. Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: evidence for IRF6 and variants at 8q24 and 10q25. Birth Defects Res A Clin Mol Teratol 88: 535-537.
25. Seki N, Takahashi Y, Tomiyama H, et al. 2011. Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease. J Hum Genet 56: 671-675.
26. Shimada T, Toriyama M, Uemura K, et al. 2008. Shootin1 interacts with actin retrograde flow and L1-CAM to promote axon outgrowth. JCell Biol 181: 817-829.
27. Slavotinek AM, Chao R, Vacik T, et al. 2012. VAX1 mutation associated with microphthalmia, corpus callosum agenesis and orofacial clefting: the first description of a VAX1 phenotype in humans. Hum Mutat 33: 364-368.
28. Sull JW, Liang KY, Hetmanski JB, et al. 2009. Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations. Eur J Hum Genet 17: 831-839.
29. Toriyama M, Shimada T, Kim KB, et al. 2006. Shootin1: a protein involved in the organization of an asymmetric signal for neuronal polarization. J Cell Biol 175: 147-157.
30. Tsai CJ, Sauna ZE, Kimchi-Sarfaty C, et al. 2008. Synonymous mutations and ribosome stalling can lead to altered folding pathways and distinct minima. J Mol Biol 383: 281-291.
31. Weatherley-White RC, Ben S, Jin Y, et al. 2011. Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African Cohort. Am J Med Genet A 155A: 2422-2425.
32. Zucchero TM, Cooper ME, Maher BS, et al. 2004. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351: 769-780.