Genomes and Genes
Experts and Doctors on cleft palate in Iowa City, Iowa, United States
Locale: Iowa City, Iowa, United States
Topic: cleft palate
- Liu H, Leslie E, Jia Z, Smith T, Eshete M, Butali A, et al. Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate. Hum Mol Genet. 2016;25:766-76 pubmed publisher..These results indicate that rare NSCL/P risk variants can be found in members of the gene regulatory network governing periderm differentiation. ..
- Wehby G, Felix T, Goco N, Richieri Costa A, Chakraborty H, Souza J, et al. High dosage folic acid supplementation, oral cleft recurrence and fetal growth. Int J Environ Res Public Health. 2013;10:590-605 pubmed publisher..The results also suggest that high dosage folic acid does not compromise fetal growth. ..
- Cooper Brown L, Copeland S, Dailey S, Downey D, Petersen M, Stimson C, et al. Feeding and swallowing dysfunction in genetic syndromes. Dev Disabil Res Rev. 2008;14:147-57 pubmed publisher..This chapter provides an overview of some of the feeding difficulties experience by some of the more common genetic disorders including identification, interventions, and management. ..
- Butali A, Little J, Chevrier C, Cordier S, Steegers Theunissen R, Jugessur A, et al. Folic acid supplementation use and the MTHFR C677T polymorphism in orofacial clefts etiology: An individual participant data pooled-analysis. Birth Defects Res A Clin Mol Teratol. 2013;97:509-14 pubmed publisher..The result of this IPD meta-analysis is consistent with previous reports suggesting that folic acid and smoking influence OFC outcomes. ..
- Murray J, Daack Hirsch S, Buetow K, Munger R, Espina L, Paglinawan N, et al. Clinical and epidemiologic studies of cleft lip and palate in the Philippines. Cleft Palate Craniofac J. 1997;34:7-10 pubmed..Preliminary molecular analysis using an association approach is reported in a companion paper. The findings suggest a high incidence of cleft lip and palate in native-born Filipinos. ..
- van der Plas E, Caspell C, Aerts A, Tsalikian E, Richman L, Dawson J, et al. Height, BMI, and pituitary volume in individuals with and without isolated cleft lip and/or palate. Pediatr Res. 2012;71:612-8 pubmed publisher..Our findings suggest that there are no gross morphological differences in pituitary volume in individuals with ICLP, although more subtle differences may exist. ..
- Moreno L, Mansilla M, Bullard S, Cooper M, Busch T, Machida J, et al. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum Mol Genet. 2009;18:4879-96 pubmed publisher..These data indicate that FOXE1 is a major gene for CL/P and provides new insights for improved counseling and genetic interaction studies. ..
- Leslie E, Mansilla M, Biggs L, Schuette K, Bullard S, Cooper M, et al. Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22. Birth Defects Res A Clin Mol Teratol. 2012;94:934-42 pubmed publisher..This work suggests a novel pathway in which the IRF6 gene regulatory network interacts with the Rho pathway via ARHGAP29. Birth Defects Research (Part A) 2012. © 2012 Wiley Periodicals, Inc. ..
- Butali A, Suzuki S, Cooper M, Mansilla A, Cuenco K, Leslie E, et al. Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P). Am J Med Genet A. 2013;161A:965-72 pubmed publisher..Determining the role of rare variants clearly warrants further investigation. ..
- Moon J, Kuehn D, Chan G, Zhao L. Induced velopharyngeal fatigue effects in speakers with repaired palatal clefts. Cleft Palate Craniofac J. 2007;44:251-60 pubmed..To address whether speakers with cleft palate exhibit velopharyngeal mechanism fatigue and are more susceptible to muscle fatigue than are speakers without cleft palate...
- Riley B, Schultz R, Cooper M, Goldstein McHenry T, Daack Hirsch S, Lee K, et al. A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23. Am J Med Genet A. 2007;143A:846-52 pubmed..Linkage and association analyses of these SNPs yield suggestive results for markers in FGFR1 (recessive multipoint HLOD 1.07) and BAG4 (recessive multipoint HLOD 1.31). ..
- Zucchero T, Cooper M, Maher B, Daack Hirsch S, Nepomuceno B, Ribeiro L, et al. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med. 2004;351:769-80 pubmed..DNA-sequence variants associated with IRF6 are major contributors to cleft lip, with or without cleft palate. The contribution of variants in single genes to cleft lip or palate is an important consideration in genetic counseling. ..
- Parada Sanchez M, Chu E, Cox L, Undurty S, Standley J, Murray J, et al. Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate. J Dent Res. 2017;96:1330-1338 pubmed publisher..The data presented suggest an important role for cytoplasmic IRF6 in regulating the availability or localization of the NME1/2 complex and thus the dynamic behavior of epithelia during lip/palate development. ..
- Rorick N, Kinoshita A, Weirather J, Peyrard Janvid M, de Lima R, Dunnwald M, et al. Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. Am J Med Genet A. 2011;155A:1314-21 pubmed publisher..The expression and mutation data were consistent with the hypothesis that WDR65 was a novel gene involved in oral clefting. ..
- Barrow L, van Bokhoven H, Daack Hirsch S, Andersen T, van Beersum S, Gorlin R, et al. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. J Med Genet. 2002;39:559-66 pubmed..This study supports a common role for p63 in classical EEC syndrome, both familial and sporadic, but not in other related or non-syndromic forms of orofacial clefts. ..
- Nidey N, Moreno Uribe L, Marazita M, Wehby G. Psychosocial well-being of parents of children with oral clefts. Child Care Health Dev. 2016;42:42-50 pubmed publisher..Also, parents from less wealthy households may be at greater risk. Parental psychosocial status should be considered in holistic family-based treatment approaches to reduce burden on affected families and improve their well-being. ..
- Paul B, Palmer K, Sharp J, Pratt C, Murray S, Dunnwald M. ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions. J Dent Res. 2017;96:1298-1305 pubmed publisher..In conclusion, we validate the LoF nature of the human K326X mutation in vivo and reveal a previously unknown effect of Arhgap29 in murine craniofacial development. ..
- Haaland Ø, Jugessur A, Gjerdevik M, Romanowska J, Shi M, Beaty T, et al. Genome-wide analysis of parent-of-origin interaction effects with environmental exposure (PoOxE): An application to European and Asian cleft palate trios. PLoS ONE. 2017;12:e0184358 pubmed publisher..More generally, the new methodology presented here is easily applicable to other traits and exposures in which a family-based study design has been implemented. ..
- Riley B, Mansilla M, Ma J, Daack Hirsch S, Maher B, Raffensperger L, et al. Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci U S A. 2007;104:4512-7 pubmed..The data suggest that the FGF signaling pathway may contribute to as much as 3-5% of NS CLP and will be a consideration in the clinical management of CLP. ..
- Jezewski P, Vieira A, Nishimura C, Ludwig B, Johnson M, O Brien S, et al. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet. 2003;40:399-407 pubmed
- Richman L, Ryan S. Do the reading disabilities of children with cleft fit into current models of developmental dyslexia?. Cleft Palate Craniofac J. 2003;40:154-7 pubmed..The purpose of this study was to determine whether the reading problems of children with cleft fit models of developmental dyslexia...
- Kondo S, Schutte B, Richardson R, Bjork B, Knight A, Watanabe Y, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002;32:285-9 pubmed..Our observations demonstrate that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia. ..
- Wehby G, Pedersen D, Murray J, Christensen K. The effects of oral clefts on hospital use throughout the lifespan. BMC Health Serv Res. 2012;12:58 pubmed publisher..The results suggest that individuals with oral clefts have higher hospitalization risks than the general population throughout most of the lifespan. ..
- Nopoulos P, Langbehn D, Canady J, Magnotta V, Richman L. Abnormal brain structure in children with isolated clefts of the lip or palate. Arch Pediatr Adolesc Med. 2007;161:753-8 pubmed
- Felix T, Hanshaw B, Mueller R, Bitoun P, Murray J. CHD7 gene and non-syndromic cleft lip and palate. Am J Med Genet A. 2006;140:2110-4 pubmed..Mutations in CHD7 are not common in isolated clefting cases and we found minimal evidence that CHD7 can act as a modifier for non-syndromic clefting. ..
- Riley B, Murray J. Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases. Am J Med Genet A. 2007;143A:3228-34 pubmed..Additionally, 15 NS CLP patients had a combination of coding mutations and CNE variants, suggesting that an accumulation of variants in the FGF signaling pathway may contribute to clefting. ..
- Leslie E, Mancuso J, Schutte B, Cooper M, Durda K, L heureux J, et al. Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. Am J Med Genet A. 2013;161A:2535-2544 pubmed publisher..We also show that families with the Van de Woude phenotype but in whom no mutations have been identified have a lower frequency of cleft lip, suggesting there may be locus and/or mutation class differences in Van de Woude syndrome. ..
- Peyrard Janvid M, Leslie E, Kousa Y, Smith T, Dunnwald M, Magnusson M, et al. Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. Am J Hum Genet. 2014;94:23-32 pubmed publisher..They supported the hypotheses that both genes are essential for the presence of a functional oral periderm and that failure of this process contributes to VWS. ..
- Vieira A, Avila J, Daack Hirsch S, Dragan E, Felix T, Rahimov F, et al. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet. 2005;1:e64 pubmed..This study also illustrates the need to test large numbers of controls to distinguish rare polymorphic variants and prioritize functional studies for rare point mutations. ..
- Leslie E, Liu H, Carlson J, Shaffer J, Feingold E, WEHBY G, et al. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. Am J Hum Genet. 2016;98:744-54 pubmed publisher..This finding advances our understanding of the genetic basis of craniofacial development and might ultimately lead to improvements in recurrence risk prediction, treatment, and prognosis. ..
- Ries R, Yu W, Holton N, Cao H, Amendt B. Inhibition of the miR-17-92 Cluster Separates Stages of Palatogenesis. J Dent Res. 2017;96:1257-1264 pubmed publisher..The differential regulation of palatogenesis by members of the miR-17-92 cluster indicates that several gene combinations regulate palate elevation and extension during development. ..
- Vieira A. Oral clefts and syndromic forms of tooth agenesis as models for genetics of isolated tooth agenesis. J Dent Res. 2003;82:162-5 pubmed..Oral clefts and syndromic forms of tooth agenesis may be the best models for isolated tooth agenesis. In the future, a precise description of the missing teeth in syndromes involving tooth agenesis may be useful. ..
- Barrow L, Wines M, Romitti P, Holdener B, Murray J. Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts. Teratology. 2002;66:85-90 pubmed..No association was demonstrated with CPO (n = 45) and CL/P (n = 37). Teratology 66:85-90, 2002. ..
- Schutte B, Bjork B, Coppage K, Malik M, Gregory S, Scott D, et al. A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. Genome Res. 2000;10:81-94 pubmed