Evidence of a Sex-Dependent Association between the MSX1 Locus and Nonsyndromic Cleft Lip with or without Cleft Palate in the Chilean Population

Blanco, Rafael; Chakraborty, Ranajit; Barton, Sara A.; Carreno, Hernan; Baeza, Mauricio; Jara, Lilian; Palomino, H; Schull, William J.

doi:10.1353/hub.2001.0002

Cited by 55 publications

(39 citation statements)

References 23 publications

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“…In human, mutations in the MSX1 gene cause orofacial clefting and tooth agenesis [95][96][97][98][99][100][101]. The homeodomain of MSX1 is pivotal in mediating its multiple functions such as DNA-binding, protein-protein interactions, protein stability, and transcription repression.…”

Section: Mutations In Msx1 Cause Tooth Agenesis and Cleft Palatementioning

confidence: 99%

Msx homeobox gene family and craniofacial development

2003

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Vertebrate Msx genes are unlinked, homeobox-containing genes that bear homology to the Drosophila muscle segment homeobox gene. These genes are expressed at multiple sites of tissue-tissue interactions during vertebrate embryonic development. Inductive interactions mediated by the Msx genes are essential for normal craniofacial, limb and ectodermal organ morphogenesis, and are also essential to survival in mice, as manifested by the phenotypic abnormalities shown in knockout mice and in humans. This review summarizes studies on the expression, regulation, and functional analysis of Msx genes that bear relevance to craniofacial development in humans and mice.

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Section: Mutations In Msx1 Cause Tooth Agenesis and Cleft Palatementioning

confidence: 99%

Msx homeobox gene family and craniofacial development

2003

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“…Genomic screens of multiplex NSCLP families have identified a number of overlapping regions that may harbor clefting susceptibility loci; several of these have been confirmed in subsequent studies [Prescott et al, 2000;Marazita et al, 2002;Wyszynski et al, 2003;Field et al, 2004;Blanton et al, 2004a,b]. In addition, TGFA, BCL3, MSX1, TGFB3, and RARA have been implicated in one or more association and/or linkage analyses, although subsequent confirmations have been inconsistent [Ardinger et al, 1989;Chenevix-Trench et al, 1991;Stein et al, 1995;Amos et al, 1996a,b;Lidral et al, 1997Lidral et al, , 1998Maestri et al, 1997;Wyszynski et al, 1997;Martinelli et al, 1998;Scapoli et al, 1998;Wong et al, 2000;Blanco et al, 2001;Jezewski et al, 2001;Mitchell et al, 2001;Beaty et al, 2002;Murray, 2002].…”

Section: Introductionmentioning

confidence: 99%

Variation in IRF6 contributes to nonsyndromic cleft lip and palate

Blanton

Cortez

Stal

et al. 2005

American J of Med Genetics Pt A

128

106

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Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common craniofacial birth defect which results in lifelong medical and social consequences. While there have been a number of attempts to identify the genes responsible for this disorder, the results have not been consistent among populations and no single gene has been identified as playing a major susceptibility role. Van der Woude syndrome, a disorder characterized by lower‐lip pits with or without cleft lip/palate, results in many cases from mutations in the interferon regulatory factor 6 (IRF6) gene. Recently, Zucchero et al. [2004: N Engl J Med 351:769–780] detected an association between SNPs in IRF6 and NSCLP in a number of different populations. A subsequent study by Scapoli et al. [2005: Am J Hum Genet 76:180–183] confirmed this association in an Italian population. We examined the same SNPs as Scapoli et al. [2005] in our large, well‐characterized sample of NSCLP families and trios, and also detected an altered transmission of IRF6 alleles. This additional confirmation further strengthens the IRF6 association and suggests that IRF6 plays a role in NSCLP susceptibility. © 2005 Wiley‐Liss, Inc.

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Section: Short Communicationmentioning

confidence: 75%

“…Some previous studies showed association or not between MSX1 variants and NS-CL/P (Lidral et al, 1997;Romitti et al, 1999;Beaty et al, 2001;Mitchell et al, 2001). Blanco et al (2001) presented evidence of a sexdependent association between MSX1 and NS-CL/P.For TGFB3, in the subset with affected fathers, the overall parental transmission distortion of allele 3 was suggestive (p-value = 0.03, Table 2), but with only five informative triads. There was no significant transmission disequilibrium in the subset of triads with affected mothers.…”

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confidence: 79%

Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence

Silva¹,

Ribeiro²,

Cooper³

et al. 2006

Genet. Mol. Biol.

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Cleft lip and/or palate (CL/P) is a major congenital defect with complex etiology, including multiple genetic and environmental factors. Approximately two thirds of the cases are not accompanied by other anomalies and are called nonsyndromic (NS). In the present study, we performed transmission distortion analysis of the MSX1-CA, TGFB3-CA and MTHFR-C677T polymorphisms in 60 parent-child triads, in which the NS-CL/P affected child had at least one affected parent. No association with genes MSX1 or TGFB3 was found, but the results were suggestive of an association of the MTHFR-C677T polymorphism with NS-CL/P. Nonsyndromic cleft lip and/or palate (NS-CL/P) affect about 1/700 livebirths, with wide variability concerning geographic distribution, ethnic background and socioeconomic status (Murray, 2002). The etiology is complex, including multiple genetic and environmental factors. The MSX1 and TGFB3 genes have been suggested as candidate genes based on animal models (Satokata and Maas, 1994;Kaartinen et al., 1995;Proetzel et al., 1995) and association studies in humans with genes MSX1, TGFB3 and MTHFR have pointed to the involvement of these genes in NS-CL/P etiology (Maestri et al., 1997;Lidral et al., 1998;Romitti et al., 1999;Mills et al., 1999; Wyszynsky and Diehl, 2000;Beaty et al., 2001). The MSX1 gene maps to chromosome 4p16. Animal models indicate that this gene plays a role in craniofacial anomalies, leading to a clefting phenotype. Van den Boogaard et al. (2000) identified a stop codon in the MSX1 gene in a three-generation Dutch family with tooth agenesis and combinations of CP only and CLP, providing further evidence for the involvement of this gene in orofacial clefting. Jezewski et al. (2003) sequenced the whole MSX1 gene in a large sample of NS-CL/P patients from different geographic regions, and found mutations in about 2% of the cases.The TGFB3 gene maps to 14q24. Animal model studies demonstrated that TGFB3 plays a role in CP (Kaartinen et al., 1995;1997;Proetzel et al., 1995; Sanford et al., 1997), andLidral et al. (1998) showed an association between TGFB3 markers and NS-CP.The MTHFR gene maps to 1p36.1, and plays a key role in the metabolism of folate by reducing methylenetrahydrofolate to 5-methyltetrahydrofolate, the primary methyl donor for methionine synthesis. The C677T nucleotide variant in the MTHFR gene results in a thermally unstable protein with reduced activity, leading to elevated plasma homocysteine levels. Considerable heterogeneity in the prevalence of the C677T polymorphism throughout the world was reported (Pepe et al., 1998).The present work aimed to investigate if genes TGFB3, MSX1 and MTHFR-C677T are involved in the etiology of NS-CLP, by testing 60 patients, all with an affected parent. We utilized a nuclear family-based approach, to determine for each form of clefting whether these genes were in linkage disequilibrium, as measured by transmission distortion.A total of 60 triads, each one including an affected child and at least one affected parent, were studied. Of...

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Evidence of a Sex-Dependent Association between the MSX1 Locus and Nonsyndromic Cleft Lip with or without Cleft Palate in the Chilean Population

Cited by 55 publications

References 23 publications

Msx homeobox gene family and craniofacial development

Msx homeobox gene family and craniofacial development

Variation in IRF6 contributes to nonsyndromic cleft lip and palate

Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence

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