500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip

American Journal of Medical Genetics, Part A

Volumn 155, Issue 3, 2011, Pages 652-655

  Jakobsen, Linda P ^a,b   Bugge, Merete ^a   Ullmann, Reinhard ^c   Schjerling, Charlotte K ^d   Borup, Rehannah ^d   Hansen, Lars ^a   Eiberg, Hans ^a   Tommerup, Niels ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b Rigshospitalet   (Denmark)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

BLOOD ANALYSIS; CLEFT LIP; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DNA SEQUENCE; EXON; GENETIC DIFFERENCE; GENOTYPE; HUMAN; LETTER; MONOZYGOTIC TWINS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SALIVA ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; CLEFT LIP; FEMALE; HUMANS; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; SALIVA; TWINS, MONOZYGOTIC;

EID: 79951991648     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33855     Document Type: Letter

References (19)

1. Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, de Ståhl TD, Menzel U, Sandgren J, von Tell D, Poplawski A, Crowley M, Crasto C, Partridge EC, Tiwari H, Allison DB, Komorowski J, van Ommen GJ, Boomsma DI, Pedersen NL, den Dunnen JT, Wirdefeldt K, Dumanski JP. 2008. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 82: 763-771.
2. Charoenchaikorn K, Yokomizo T, Rice DP, Honjo T, Matsuzaki K, Shintaku Y, Imai Y, Wakamatsu A, Takahashi S, Ito Y, Takano-Yamamoto T, Thesleff I, Yamamoto M, Yamashiro T. 2009. Runx1 is involved in the fusion of the primary and the secondary palatal shelves. Dev Biol 326: 392-402.
3. Coré N, Caubit X, Metchat A, Boned A, Djabali M, Fasano L. 2007. Tshz1 is required for axial skeleton, soft palate and middle ear development in mice. Dev Biol 308: 407-420.
4. Denaxa M, Sharpe PT, Pachnis V. 2009. The LIM homeodomain transcription factors Lhx6 and Lhx7 are key regulators of mammalian dentition. Dev Biol 333: 324-336.
5. Erdogan F, Chen W, Kirchhoff M, Kalscheuer VM, Hultschig C, Müller I, Schulz R, Menzel C, Bryndorf T, Ropers H-H, Ullmann R. 2006. Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenet Genome Res 115: 247-253.
6. Ghassibe M, Bayet B, Revencu N, Verellen-Dumoulin C, Gillerot Y, Vanwijck R, Vikkula M. 2005. Interferon regulatory factor-6: A gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population. Eur J Hum Genet 13: 1239-1242.
7. Gringras P, Chen W. 2001. Mechanisms for differences in monozygous twins. Early Hum Dev 64: 105-117.
8. Hall JG. 1996. Twinning: Mechanisms and genetic implications. Curr Opin Genet Dev 6: 343-347.
9. Kimani JW, Shi M, Daack-Hirsch S, Christensen K, Moretti-Ferreira D, Marazita ML, Field LL, Canady JW, Murray JC. 2007. X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate. Am J Med Genet Part A 143A: 3267-3272.
10. Kimani JW, Yoshiura K, Shi M, Jugessur A, Moretti-Ferreira D, Christensen K, Murray C. 2009. Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate. Twin Res Hum Genet 12: 462-468.
11. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. 2002. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32: 285-289.
12. Machin GA. 1996. Some causes of genotypic and phenotypic discordance in monozygotic twin pairs. Am J Med Genet 61: 216-228.
13. Mansilla MA, Kimani J, Mitchell LE, Christensen K, Boomsma DI, Daack-Hirsch S, Nepomucena B, Wyszynski DF, Felix TM, Martin NG, Murray JC. 2005. Discordant MZ twins with cleft lip and palate: a model for identifying genes in complex traits. Twin Res Hum Genet 8: 39-46.
14. Park JW, Cai J, McIntosh I, Jabs EW, Fallin MD, Ingersoll R, Hetmanski JB, Vekemans M, Attie-Bitach T, Lovett M, Scott AF, Beaty TH. 2006. High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. J Med Genet 43: 598-608.
15. Scapoli L, Palmieri A, Martinelli M, Pezzetti F, Carinci P, Tognon M, Carinci F. 2005. Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet 76: 180-183.
16. Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Félix TM, Rahimov F, Harrington J, Schultz RR, Watanabe Y, Johnson M, Fang J, O'Brien SE, Orioli IM, Castilla EE, Fitzpatrick DR, Jiang R, Marazita ML, Murray JC. 2005. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLos Genet 1: e64.
17. Watanabe A, Akita S, Tin NT, Natsume N, Nakano Y, Niikawa N, Uchiyama T, Yoshiura K. 2006. A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate. Cleft Palate Craniofac J 43: 310-316.
18. Woo JG, Sun G, Haverbusch M, Indugula S, Martin LJ, Broderick JP, Deka R, Woo D. 2007. Quality assessment of buccal versus blood genomic DNA using the Affymetrix 500K GeneChip. BMC Genet 8: 79.
19. Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu YE, Ray A, Goldstein TH, Schultz RE, Shi M, Johnson MK, Kondo S, Schutte BC, Marazita ML, Murray JC. 2004. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351: 769-780.