IRF6, RYK, and PAX9 Expression in Facial Tissue of Children with Cleft Palate

Smane, Liene; Pilmane, Māra

doi:10.4067/s0717-95022015000200037

Cited by 4 publications

(6 citation statements)

References 23 publications

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“…Further, mutations in the RYK gene were also found to be associated with orofacial clefting. 110 111 Significant linkage disequilibrium between Gamma-aminobutyric acid receptor, Beta-3 (GABRB3), and CLP was reported by Scapoli et al and this finding in humans is in agreement with previously reported data obtained with the murine model. 112 In addition, Baroni et al and Carter et al reported the association of GABRB3 with oral clefts in different populations.…”

Section: Genes Involved In the Etiology Of Nonsyndromic Orofacial Clesupporting

confidence: 91%

Genetic Factors in Nonsyndromic Orofacial Clefts

Khan

Cs²,

Srinath

2020

Global Medical Genetics

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Orofacial clefts (OFCs) are the most common congenital birth defects in humans and immediately recognized at birth. The etiology remains complex and poorly understood and seems to result from multiple genetic and environmental factors along with gene–environment interactions. It can be classified into syndromic (30%) and nonsyndromic (70%) clefts. Nonsyndromic OFCs include clefts without any additional physical or cognitive deficits. Recently, various genetic approaches, such as genome-wide association studies (GWAS), candidate gene association studies, and linkage analysis, have identified multiple genes involved in the etiology of OFCs.This article provides an insight into the multiple genes involved in the etiology of OFCs. Identification of specific genetic causes of clefts helps in a better understanding of the molecular pathogenesis of OFC. In the near future, it helps to provide a more accurate diagnosis, genetic counseling, personalized medicine for better clinical care, and prevention of OFCs.

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Section: Genes Involved In the Etiology Of Nonsyndromic Orofacial Clesupporting

confidence: 91%

Genetic Factors in Nonsyndromic Orofacial Clefts

Khan

Cs²,

Srinath

2020

Global Medical Genetics

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“…Studies in an animal model had revealed that IRF6 was expressed in the facial primordium before and during morphogenesis of the primary palate, as it was expressed in the epithelium of the lateral and medial nasal prominences as well as the epithelium of the maxillary and mandibular prominences. 12,29,34 Preliminary findings in mice had also revealed the IRF6 expression in the MEE of fusing secondary palatal shelves, tooth buds, hair follicles, and skin. 34,35 Also, IRF6 was strongly expressed in the MEE throughout palatal development.…”

Section: Discussionmentioning

confidence: 98%

“…12,29,34 Preliminary findings in mice had also revealed the IRF6 expression in the MEE of fusing secondary palatal shelves, tooth buds, hair follicles, and skin. 34,35 Also, IRF6 was strongly expressed in the MEE throughout palatal development. 29,35 During the postnatal period, as in the adult, high IRF6 expression was also detected in hair follicles, palatal rugae, tooth germ and thyroglossal duct, external genitalia, and skin throughout the body.…”

Section: Discussionmentioning

confidence: 98%

The effects of IRF6 rs2235373 polymorphism on mRNA expression changes in non-syndromic cleft lip and palate with various phenotypes

et al. 2018

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Introduction:The IRF6 rs2235373 (C/T) is a polymorphism in the intron region that has been associated with non-syndromic cleft lip and palate (NS CLP) among some populations. Polymorphism in introns can also affect the transcription that should be detected through some changes in IRF6 mRNA expression. This study was aimed to evaluate the effects of IRF6 rs2235373 polymorphism on mRNA expression changes in NS CLP with its phenotypes which include complete unilateral (CU) CLP, complete bilateral (CB) CLP, cleft lip only (CLO), and cleft palate only (CPO). Methods: This study was a laboratory analytical study, using samples from 198 individuals in Indonesia (136 individuals with NS CL/P consisted of CU CLP (n=42), CB CLP (n=34), CLO (n=33), CPO (n=27), and 62 individuals as controls). DNA was extracted from venous blood, and the segment of rs2235373 was evaluated by PCR and Sanger sequencing. mRNA expressions analysis preceded by RNA extraction from oral epithelium, then real-time (RT) PCR was performed. mRNA expression changes were analysed by Livak method and Kruskal Wallis test followed by the Mann Whitney test through CC, GT, and TT genotype. Results: The mRNA expression of TT genotype from NS CU CLP and control was 3.36 higher value than CC genotype (p=0.008), and the mRNA expression of CT genotype from NS CB CLP and control was 0.16 lower value than CC genotype (p=0.000). Conclusion: The IRF6 rs2235373 polymorphism of TT genotype tend to cause mRNA overexpression in NS CU CLP, and CT genotype tend to cause mRNA underexpression in NS CB CLP.

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“…(http://www.genome.ucsc.edu) IRF6 down‐regulation was accompanied by methylation of a CpG island in its promoter region in human squamous cell carcinomas cell lines (Botti et al., ). The overall number of IRF6‐positive oral epithelial cells in complete bilateral CLP patients was lower than that in controls (Sman & Pilmane, ). Therefore, proper methylation status of IRF6 promoter regions is necessary for normal development of lip and palate.…”

Section: Discussionmentioning

confidence: 99%