<i>MSX1</i> and Orofacial Clefting with and without Tooth Agenesis

Modesto, Adriana; Moreno, Lina M.; Krahn, Katy N.; King, S.; Lidral, Andrew C.

doi:10.1177/154405910608500612

Cited by 61 publications

(60 citation statements)

References 31 publications

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“…Due to the lack of tooth buds, over-retained primary teeth are observed. Among various tooth anomalies, also taurodontism had been reported [27][28][29]. Another characteristic might be late dental development, which is specified as delayed tooth eruption and slower maturation expressed in dental age [30].…”

Section: Facial and Dental Featuresmentioning

confidence: 99%

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Paradowska-Stolarz¹

2014

Adv Clin Exp Med

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Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Another characteristic feature is microcephalia with micrognathia. The features are more pronounced in infants. Clefts of lip and/or palate are observed in almost half of the cases. The characteristic thing is that the more genetic material is missing, the more pronounced are the dimorphic features of the syndrome. Mostly, the dental status does not differ much from that of the healthy individuals. It had been proven though that WHS-patients are more prone to anomalies in dental structures. Cone-shaped and taurodontic teeth were observed. Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1-gene impairment (Adv Clin Exp Med 2014, 23, 3, 485-489).

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Section: Facial and Dental Featuresmentioning

confidence: 99%

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Paradowska-Stolarz¹

2014

Adv Clin Exp Med

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“…[15][16][17][18][19] To date, only a few studies have addressed the genetic basis of oral cleft with or without tooth agenesis in humans. [20][21][22] Van den Boogaard et al 20 and Liang et al 21 suggested that tooth agenesis and oral cleft were associated with nonsense mutations of MSX1, such as Ser104stop in exon 1 in a Dutch family and Q189X in exon 2 in a Chinese family, respectively. However, Liang et al 21 also reported that sequence analysis of PAX9 did not reveal mutation in any of the affected individuals studied.…”

Section: Introductionmentioning

confidence: 99%

Associations between the risk of tooth agenesis and single-nucleotide polymorphisms of MSX1 and PAX9 genes in nonsyndromic cleft patients

Seo

Park

Kim

et al. 2013

The Angle Orthodontist

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Objective: To investigate the association between the risk of tooth agenesis and single-nucleotide polymorphisms (SNPs) of MSX1 and PAX9 genes in nonsyndromic cleft patients. Materials and Methods: The subjects were 126 Korean nonsyndromic cleft patients. Tooth agenesis type (TAT) was classified as none (0); cleft area (1); cleft area + other area (2); and other area (3) based on agenesis of the maxillary lateral incisor (MXLI) and another tooth within or outside the cleft area. TAT was further grouped into two subcategories (0 and 1) and four subcategories (0, 1, 2, and 3). Three SNPs of MSX1 and 10 SNPs of PAX9 were investigated using Fisher's exact test and logistic regression analysis. Results: Although the association between genotype distribution of PAX9-rs7142363 and TAT was significant (P , .05 in four subcategories), genotypic odds ratios (GORs) of SNPs in each TAT were not meaningful. However, for MSX1-rs12532 and PAX9-rs2073247, associations between genotypic distribution and TAT were significant (P , .01 in four subcategories and P , .05 in two subcategories; P , .01 in two subcategories, respectively). In cleft area, GORs of MXLI agenesis in genotypes GA of MSX1-rs12532 and CT of PAX9-rs2073247 were increased by 3.14-fold and 4.15-fold compared with genotype GG of MSX1-rs12532 and CC of PAX9-rs2073247, respectively (P ,. 01; P , .05). In cleft area + other area, the GOR of agenesis of MXLI and another tooth in genotype AA of MSX1-rs12532 was increased by fivefold compared with genotype GG (P , .05). Conclusion: Genetic disturbances of MSX1 and PAX9 genes are associated with tooth agenesis within and outside the cleft area. (Angle Orthod. 2013;83:1036-1042

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“…Extensive studies in knockout mice have also demonstrated that Msx1-Bmp signaling, regulating expression of Shh, is essential for palate development (Zhang et al 2002) and the identiWcation of a MSX1 stop mutation in a Dutch family with a combination of tooth agenesis and OFC conWrmed MSX1 as a candidate gene for clefting in humans (van den Boogaard et al 2000). Sequencing-and association studies have indicated a role for MSX1 in the etiology of nonsyndromic orofacial clefting (Lidral et al 1998;Beaty et al 2001;Blanco et al 2004;Fallin et al 2003;Jezewski et al 2003;Jugessur et al 2003;Vieira et al 2003;Moreno et al 2004;Vieira et al 2005;Modesto et al 2006;Tongkobpetch et al 2006;Park et al 2007), although results published by others question this role (Mitchell et al 2001;Koillinen et al 2003;Etheredge et al 2005).…”

Section: Introductionmentioning

confidence: 99%

The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts

et al. 2008

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Nonsyndromic orofacial clefts (OFC) are common birth defects caused by certain genes interacting with environmental factors. Mutations and association studies indicate that the homeobox gene MSX1 plays a role in human clefting. In a Dutch case-control triad study (mother, father, and child), we investigated interactions between MSX1 and the parents' periconceptional lifestyle in relation to the risk of OFC in their oVspring. We studied 181 case-and 132 control mothers, 155 case-and 121 control fathers, and 176 case-and 146 control children, in which there were 107 case triads and 66 control triads. Univariable and multivariable logistic regression analyses were applied, and odds ratios (OR), 95% conWdence intervals (CI) were calculated. Allele 4 of the CA marker in the MSX1 gene, consisting of nine CA repeats, was the most common allele found in both the case and control triads. SigniWcant interactions were observed between allele 4 homozygosity of the child with maternal smoking (OR 2.7, 95% CI 1.1-6.6) and with smoking by both parents (OR 4.9, 95% CI 1.4-18.0). Allele 4 homozygosity in the mother and smoking showed a risk estimate of OR 3.2 (95% CI 1.1-9.0). If allele 4 homozygous mothers did not take daily folic acid supplements in the recommended periconceptional period, this also increased the risk of OFC for their oVspring (OR 2.8, 95% CI 1.1-6.7). Our Wndings show that, in the Dutch population, periconceptional smoking by both parents interacts with a speciWc allelic variant of MSX1 to signiWcantly increase OFC risk for their oVspring. Possible underlying mechanisms are discussed.

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MSX1 and Orofacial Clefting with and without Tooth Agenesis

Cited by 61 publications

References 31 publications

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Associations between the risk of tooth agenesis and single-nucleotide polymorphisms of MSX1 and PAX9 genes in nonsyndromic cleft patients

The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts

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