Novel rare variations in <i>IRF6</i> in subjects with non‐syndromic cleft lip and palate and dental agenesis

Neves, Lucimara Teixeira das; Dionísio, Thiago José; Garbieri, Thais Francini; Parisi, Viviane Aparecida; Oliveira, Fernanda Veronese de; Oliveira, Thaís Marchini de; Santos, Carlos

doi:10.1111/odi.12975

Cited by 10 publications

(8 citation statements)

References 54 publications

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“…Bezerra et al revealed that rs2235371 in this gene is correlated with increased risk of non-syndromic orofacial clefts in Brazilian population 13 . On the other hand, with sequencing of IRF6 in 100 Non-Syndromic Unilateral Cleft Lip and Palate (NSUCLP) patients, ten new and rare missense variations were identified, among which four variations were potentially deleterious 14 . The common polymorphisms in IRF6 account for up to 12% of the total incidences of NSCL/P, which indicates that this gene is strongly associated with orofacial clefting 15 .…”

Section: Discussionmentioning

confidence: 99%

Association of rs2013162 and rs2235375 Polymorphisms in IRF6 Gene with Susceptibility to Non-Syndromic Cleft Lip and Palate

Soleymani¹,

Ebadifar²,

Khosravi³

et al. 2022

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Background: Non-syndromic cleft lip occurs by the interaction of environmental and genetic factors. The purpose of the current study was to analyze the association of Single Nucleotide Polymorphisms (SNPs) in IRF6 and NSCL/P in an Iranian population. Methods: A group of 105 children with NSCL/P and 185 normal controls were included in the current study. Genotyping of IRF6 rs2013162 and rs2235375 was performed by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. Results: A substantial association of AA and CA genotypes in rs2013162 with the risk of NSCL/P (AA vs. CC; OR=2.36; 95%CI [1.05-5.29], p=0.004; and CA vs. CC; OR=0.47; 95%CI [0.28-0.79], p=0.018) was found. However, there were no important associations between A allele and risk of NSCL/P (p=0.980). According to logistic regression analysis results, subjects with GG genotype and G allele in rs2235375 polymorphism had increased risk of NSCL/P. Conclusion: The IRF6 polymorphisms are associated with the susceptibility to NSCL/P in Iranian population.

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Section: Discussionmentioning

confidence: 99%

Association of rs2013162 and rs2235375 Polymorphisms in IRF6 Gene with Susceptibility to Non-Syndromic Cleft Lip and Palate

Soleymani¹,

Ebadifar²,

Khosravi³

et al. 2022

AJMB

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“…For a long period of time, the genetic aspects related to the etiology of non‐syndromic orofacial cleft (NSOFC) have been studied. In addition to the investigative analysis of genes, other important factors need to be considered, such as parental consanguinity and family history (Freitas et al, 2012; Neves et al, 2019; Silva et al, 2019).…”

Section: Discussionmentioning

confidence: 99%

Family history in non‐syndromic orofacial clefts: Is there a pattern?

et al. 2021

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Objective To survey the frequency and pattern of family history for non‐syndromic orofacial clefts (NSOFC). Initial hypothesis: more complex forms have a higher frequency of positive family history. Materials and Methods A retrospective study was carried with 2,668 subjects with three different types of clefts (CL Group (cleft lip), CLP Group (cleft lip and palate), and CP group (cleft palate)); family history information was collected. The Chi‐square (X2) and Z‐test were used. Results A positive family history was found in 31% of the sample. The CLP Group had highest percentage and highest proportion of affected relatives, being these factors statistically significant when compared to the CP Group. Comparisons between the CLP Male and CL Male with CP Male were statistically significant. First‐degree kinship was the most frequently found. Conclusions The initial hypothesis was confirmed, subjects with CLP had the highest percentage of positive family history, the highest proportion of affected relatives and had more affected relatives in comparison with CP. It is more common to find affected relatives in the CLP Male and CL Male groups when compared with CP Male. CLP and CP groups present a pattern of occurrence of the type of cleft in the family.

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“…Therefore, some genes associated with the occurrence of hypodontia also present genetic variants as genetic risk factors for NSOC (Seo et al, 2013). Candidate genes include: MSX1 , PAX9 , SATB2 , CDH1 , IRF6 , TBX22 , TGF , TGFα , TGFβ3 BMP2 , BMP4 , and WNT (Gong et al, 2015; Kaiser et al, 2015; Kantaputra et al, 2011; Letra et al, 2009, 2012; Lu et al, 2016, 2017; Neves et al, 2019; Seo et al, 2013; Slayton et al, 2003; Song et al, 2014; Williams & Letra, 2018). Considering this context, these genetic variants could potentially not only participate in the predisposition to hypodontia but also contribute to the risk of occurrence of OC, and vice versa .…”

Section: Detailing Of Dental Anomaliesmentioning

confidence: 99%

“…Therefore, some genes associated with the occurrence of hypodontia also present genetic variants as genetic risk factors for NSOC (Seo et al, 2013). Candidate genes include: MSX1, PAX9, SATB2, CDH1, IRF6, TBX22, TGF, TGFα, TGFβ3 BMP2, BMP4, and WNT (Gong et al, 2015;Kaiser et al, 2015;Kantaputra et al, 2011;Letra et al, 2009Letra et al, , 2012Lu et al, 2016Lu et al, , 2017Neves et al, 2019;Seo et al, 2013;Slayton et al, 2003;Song et al, 2014;Williams & Letra, 2018).…”

Section: F I G U R Ementioning

confidence: 99%

Dental anomalies in non‐syndromic orofacial clefts: A clinical approach

et al. 2022

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Orofacial clefts (OC) represent some of the most common congenital malformations and affect multiple structures in the craniofacial region. There are a wide range of morphological OC types within the spectrum of both non‐syndromic OC (NSOC) and syndromic OC, including cleft lip (CL), cleft lip and palate, (CLP), and cleft palate (CP). Here, we describe the most frequent dental anomalies seen in the permanent dentition of individuals with NSOC, comparing them between the three main cleft types (CL, CLP, and CP). We present these findings from the perspective of prevalence relating to each anomaly, as well as the clinical characteristics and potential impact on the rehabilitation process. The investigation of dental anomalies associated with NSOC is important, helping to expand the phenotypic characterization of NSOC, improve the initial diagnostics, and establish appropriate rehabilitation and counseling.

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Novel rare variations in IRF6 in subjects with non‐syndromic cleft lip and palate and dental agenesis

Cited by 10 publications

References 54 publications

Association of rs2013162 and rs2235375 Polymorphisms in IRF6 Gene with Susceptibility to Non-Syndromic Cleft Lip and Palate

Association of rs2013162 and rs2235375 Polymorphisms in IRF6 Gene with Susceptibility to Non-Syndromic Cleft Lip and Palate

Family history in non‐syndromic orofacial clefts: Is there a pattern?

Dental anomalies in non‐syndromic orofacial clefts: A clinical approach

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