MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population

Journal of Human Genetics

Volumn 51, Issue 8, 2006, Pages 671-676

  Tongkobpetch, Siraprapa ^a   Siriwan, Pichit ^a   Shotelersuk, Vorasuk ^a,b  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

Author keywords

Association; Haplotype; MSX1; Mutations; Nonsyndromic cleft lip

Indexed keywords

EID: 77952880032     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0006-4     Document Type: Article

References (13)

1. Blanco R, Chakraborty R, Barton SA, Carreno H, Paredes M, Jara L, Palomino H, Schull WJ (2001) Evidence of a sex-dependent association between the MSX1 locus and nonsyndromic cleft lip with or without cleft palate in the Chilean population. Hum Biol 73:81-89 (Pubitemid 32333523)
2. Jezewski PA, Vieira AR, Nishimura C, Ludwig B, Johnson M, O'Brien SE, Daack-Hirsch S, Schultz RE, Weber A, Nepomucena B, Romitti PA, Christensen K, Orioli IM, Castilla EE, Machida J, Natsume N, Murray JC (2003) Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet 40:399-407 (Pubitemid 36760656)
3. Jugessur A, Murray JC (2005) Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev 15:270-278 (Pubitemid 40726050)
4. Jugessur A, Lie RT, Wilcox AJ, Murray JC, Taylor JA, Saugstad OD, Vindenes HA, Abyholm F (2003) Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis. Genet Epidemiol 24:230-239 (Pubitemid 36444188)
5. Leoyklang P, Siriwan P, Shotelersuk V (2006) A mutation of the p63 gene in non-syndromic cleft lip. J Med Genet 43:e28
6. Lidral AC, Romitti PA, Basart AM, Doetschman T, Leysens NJ, Daack-Hirsch S, Semina EV, Johnson LR, Machida J, Burds A, Parnell TJ, Rubenstein JL, Murray JC (1998) Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am J Hum Genet 63:557-568 (Pubitemid 30418638)
7. Satokata I, Maas R (1994) Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 6:348-356 (Pubitemid 24190017)
8. Shotelersuk V, Ittiwut C, Siriwan P, Angspatt A (2003) Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip. J Med Genet 40:e64
9. Shotelersuk V, Desudchit T, Tongkobpetch S (2004) ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs. Int J Mol Med 14:683-689
10. Srichomthong C, Siriwan P, Shotelersuk V (2005) Significant association between IRF6 820G > A and non-syndromic cleft lip with or without cleft palate in the Thai population. J Med Genet 42:e46
11. Suzuki Y, Jezewski PA, Machida J, Watanabe Y, Shi M, Cooper ME, Viet le T, Nguyen TD, Hai H, Natsume N, Shimozato K, Marazita ML, Murray JC (2004) In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. Genet Med 6:117-125
12. Van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK (2000) MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet 24:342-343 (Pubitemid 30187429)
13. Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Felix 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