Orofacial clefting: recent insights into a complex trait

Jugessur, Astanand; Murray, Jeffrey C.

doi:10.1016/j.gde.2005.03.003

Cited by 191 publications

(179 citation statements)

References 75 publications

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“…Defects at any step of facial development can result in clefts of the lip or palate, which are common birth defects in humans, affecting between 1 in 500 and 1 in 1,000 births. Orofacial clefts occur as part of a syndrome or as isolated congenital defects and are though to be caused by a combination of genetic and environmental factors (reviewed in Jugessur and Murray, 2005;GritliLinde, 2008).…”

Section: Introductionmentioning

confidence: 99%

Regulation of Tbx22 during facial and palatal development

Fuchs

Inthal

Herrmann

et al. 2010

Developmental Dynamics

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Mutations in the gene encoding the T-box transcription factor TBX22 cause X-linked cleft palate and ankyloglossia in humans. Here we show that Tbx22 expression during facial and palatal development is regulated by FGF and BMP signaling. Our results demonstrate that FGF8 induces Tbx22 in the early face while BMP4 represses and thus restricts its expression. This regulation is conserved between chicken and mouse, although the Tbx22-expression patterns differ considerably between these two species. We suggest that these species-specific differences may result at least in part from differences in the spatiotemporal patterns of BMP activity, but we exclude a direct repression of Tbx22 by the BMP-inducible transcriptional repressor MSX1. Together these findings help to integrate Tbx22 into the molecular network of factors regulating facial development. Developmental Dynamics 239:2860-2874,

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Section: Introductionmentioning

confidence: 99%

Regulation of Tbx22 during facial and palatal development

Fuchs

Inthal

Herrmann

et al. 2010

Developmental Dynamics

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“…They have a birth prevalence varying from 1 in 1,500 to 1 in 2,500 in Caucasian populations (Schutte and Murray 1999). These Wgures also depend on ethnic background, geographic origin, lifestyle factors and socioeconomic status (Jugessur and Murray 2005). OFC are most often classiWed into cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO).…”

Section: Introductionmentioning

confidence: 99%

“…OFC are most often classiWed into cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO). The etiology of OFC is complex, meaning both genetic and environmental factors are involved (Jugessur and Murray 2005;Krapels et al 2006a;Gritli-Linde 2007;Schliekelman and Slatkin 2002). Gene expression studies and a transgenic knock-out model with cleft phenotype have suggested that Msx1 is involved in the etiology of clefting (Satokata and Maas 1994;Davidson 1995).…”

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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“…Of these, neural tube defects are in decline due to folic acid supplementation but the frequency of orofacial clefts has stubbornly remained the same for decades (Kohut and Rusen, 2002). Most clefts are mostly nonsyndromic, in other words, they occur in isolation from other abnormalities (Jugessur and Murray, 2005). The causes are thought to be multifactorial, including an interaction between genes and the environment (Jugessur and Murray, 2005).…”

Section: Introductionmentioning

confidence: 99%

“…Most clefts are mostly nonsyndromic, in other words, they occur in isolation from other abnormalities (Jugessur and Murray, 2005). The causes are thought to be multifactorial, including an interaction between genes and the environment (Jugessur and Murray, 2005). Clefts begin in embryogenesis and are a result of upper facial prominences that are smaller, have delayed growth or a different morphology.…”

Section: Introductionmentioning

confidence: 99%

Whole genome microarray analysis of chicken embryo facial prominences

Buchtová

Kuo

Nimmagadda

et al. 2010

Developmental Dynamics

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The face is one of the three regions most frequently affected by congenital defects in humans. To understand the molecular mechanisms involved, it is necessary to have a more complete picture of gene expression in the embryo. Here, we use microarrays to profile expression in chicken facial prominences, post neural crest migration and before differentiation of mesenchymal cells. Chip-wide analysis revealed that maxillary and mandibular prominences had similar expression profiles while the frontonasal mass chips were distinct. Of the 3094 genes that were differentially expressed in one or more regions of the face, a group of 56 genes was subsequently validated with quantitative polymerase chain reaction (QPCR) and a subset examined with in situ hybridization. Microarrays trends were consistent with the QPCR data for the majority of genes (81%). On the basis of QPCR and microarray data, groups of genes that characterize each of the facial prominences can be determined. Developmental Dynamics 239:574-591,

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Orofacial clefting: recent insights into a complex trait

Cited by 191 publications

References 75 publications

Regulation of Tbx22 during facial and palatal development

Regulation of Tbx22 during facial and palatal development

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

Whole genome microarray analysis of chicken embryo facial prominences

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