Environmental mechanisms of orofacial clefts

Garland, Michael A.; Reynolds, Kurt; Zhou, Chengji J.

doi:10.1002/bdr2.1830

Cited by 36 publications

(35 citation statements)

References 292 publications

(337 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…There is no clear molecular mechanism to explain the teratological effect of ethanol in producing epigenetic changes, oxidative stress, or in antagonizing retinoic acid signaling (Garland et al, 2020).…”

Section: 2016)mentioning

confidence: 99%

“…Although there is epidemiological evidence, compared to smoke exposition, maternal alcohol consumption does not seem to present a clear relationship to the risk of orofacial clefts (Garland et al., 2020). Thus, our literature search found only one meta‐analysis significantly demonstrating this relationship, and only for maternal heavy alcohol consumption.…”

Section: Environmental Risk Factorsmentioning

confidence: 99%

“…Only in this comparison, they detected a significant increase in the risk of non‐syndromic cleft lip ( DeRoo et al., 2016). There is no clear molecular mechanism to explain the teratological effect of ethanol in producing epigenetic changes, oxidative stress, or in antagonizing retinoic acid signaling (Garland et al., 2020).…”

Section: Environmental Risk Factorsmentioning

confidence: 99%

“…Orofacial clefts (OFCs) are the most prevalent craniofacial birth defects worldwide and their average prevalence is around 1 in 700 for live newborns (Garland et al., 2020). These malformations include failure of the closure of the upper lip, alveolus, and primary palate anterior to incisive foramen, recognized as cleft lip (CL), and secondary palate defects (hard and/or soft palate), called cleft palate (Kirschner & LaRossa, 2000).…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Environmental factors in non‐syndromic orofacial clefts: A review based on meta‐analyses results

Suazo

2021

Oral Diseases

View full text Add to dashboard Cite

Non-syndromic orofacial clefts (NSOFCs) are prevalent birth defects with a complex etiology where several interacting genetic and environmental factors have been observed. This narrative review describes maternal exposures that have been significantly associated with protective effects or risk factors. The statistically significant information reported here was found in meta-analysis studies, taking advantage of their precision in defining intervention effects and their management of heterogeneity between studies. In addition, I propose a hypothesis explaining the biological basis for the results of the meta-analyses. This review aims to improve the evidence available in parent counseling, to prevent the occurrence of orofacial clefts by suggesting lifestyle changes.

show abstract

Section: 2016)mentioning

confidence: 99%

Section: Environmental Risk Factorsmentioning

confidence: 99%

Section: Environmental Risk Factorsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Environmental factors in non‐syndromic orofacial clefts: A review based on meta‐analyses results

Suazo

2021

Oral Diseases

View full text Add to dashboard Cite

show abstract

“…It is well established that nonsyndromic orofacial clefts have a complex multifactorial etiology ( Garland et al, 2020 ; Leslie, 2021 ). Genes, endogenous and exogenous environmental factors, interactions among genes and/or environmental agents, and epigenetic modifications are all believed to play a role.…”

Section: Introductionmentioning

confidence: 99%

What’s Shape Got to Do With It? Examining the Relationship Between Facial Shape and Orofacial Clefting

Weinberg

2022

Front. Genet.

View full text Add to dashboard Cite

Nonsyndromic orofacial clefts belong to a class of congenital malformations characterized by a complex and multifactorial etiology. During early facial development, multiple factors can disrupt fusion leading to a cleft; this includes the shape of the embryonic face. The face shape hypothesis (FSH) of orofacial clefting emerged in the 1960s, influenced by morphological differences observed within affected families, comparative studies of mouse models, and advances in modeling genetic liability for complex traits in populations. For the past five decades, studies have documented changes in the shape or spatial arrangement of facial prominences in embryonic mice and altered post-natal facial shape in individuals at elevated risk for orofacial clefting due to their family history. Moreover, recent studies showing how genes that impact facial shape in humans and mice are providing clues about the genetic basis of orofacial clefting. In this review, I discuss the origins of the FSH, provide an overview of the supporting evidence, and discuss ways in which the FSH can inform our understanding of orofacial clefting.

show abstract

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

Perez

Chung

Head

et al. 2023

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Exome sequencing (ES) is now a relatively straightforward process to identify causal variants in Mendelian disorders. However, the same is not true for ES in families where the inheritance patterns are less clear, and a complex etiology is suspected. Orofacial clefts (OFCs) are highly heritable birth defects with both Mendelian and complex etiologies. The phenotypic spectrum of OFCs may include overt clefts and several subclinical phenotypes, such as discontinuities in the orbicularis oris muscle (OOM) in the upper lip, velopharyngeal insufficiency (VPI), microform clefts or bifid uvulas. We hypothesize that expanding the OFC phenotype to include these phenotypes can clarify inheritance patterns in multiplex families, making them appear more Mendelian. We performed exome sequencing to find rare, likely causal genetic variants in 31 multiplex OFC families, which included families with multiple individuals with OFCs and individuals with subclinical phenotypes. We identified likely causal variants in COL11A2, IRF6, SHROOM3, SMC3, TBX3, and TP63 in six families. Although we did not find clear evidence supporting the subclinical phenotype hypothesis, our findings support a role for rare variants in the etiology of OFCs.

show abstract

Environmental mechanisms of orofacial clefts

Cited by 36 publications

References 292 publications

Environmental factors in non‐syndromic orofacial clefts: A review based on meta‐analyses results

Environmental factors in non‐syndromic orofacial clefts: A review based on meta‐analyses results

What’s Shape Got to Do With It? Examining the Relationship Between Facial Shape and Orofacial Clefting

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

Contact Info

Product

Resources

About