scholarly journals Association of the IRF6 rs2235371 and rs861019 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in the Yakut Population

2021 ◽  
Vol 11 (4) ◽  
pp. 570-575
Author(s):  
Nadezhda Pavlova ◽  
Aleksandra Diakonova ◽  
Vladislav Alekseev ◽  
Lyubov Mironova ◽  
Vladimir Dodokhov ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Comparison Group ◽  
Group Analysis ◽  
Low Frequency ◽  
Allele Frequencies ◽  
Unrelated Control ◽  
Yakut Population ◽  
Homozygous Genotype ◽  
A Minor

Background: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects. NSCL/P can be broadly divided into cleft lip only (CLO), cleft palate only (CPO), and cleft lip with cleft palate (CLP) based on clinical presentation. The aim of this study was to investigate the relationship between the IRF6 gene polymorphisms and non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Yakut population. Methods and Results: In 23 OFC patients and 58 unrelated control subjects from the Yakut population, we tested two SNPs (rs2235371 and rs861019) with a minor allele frequency of more than 5% in the candidate gene IRF6. We found that the SNP marker rs861019 showed significant differences in allele frequencies (OR=2.07, 95%CI: 1.01–4.23, P=0.04) between the NSCL/P patients and the comparison group. Analysis of allele frequencies for rs861019 SNP in subgroups showed that there was a difference in the frequency between CLP and control (OR=5, 95% CI: 1.61-15.53, P=0.11); however, this result was not significant. Genotype analysis showed significant differences in patients from the CLP subgroup in comparison with controls for homozygous (AA compared with GG) (OR=9.00, 95% CI: 1.03–78.58, P=0.03), heterozygous (GA compared with GG) (OR=5.50, 95% CI: 1.05-28.75, P=0.04,), recessive (GG compared with GA + AA) (OR=6.67, 95% CI: 1.61-27.58; RR=4.78, 95% CI: 1.42–16.10, P=0.008,) and co-dominant (GG compared with GA, compared with AA) (P=0.02) inheritance models. Diplotype analysis showed that the NSCL/P group was more likely to have the [CC]-[GG] diplotype than the comparison group. This diplotype carries the risk GG genotype (rs861019) (30.4%) and does not carry the risk T allele(rs2235371). In the CLP subgroup, two diplotypes ([CT]-[GG] and [CC]-[GG]) were found more often than in the comparison group. Both diplotypes carry the risk GG genotype(rs861019; 33.3%). In the CPO subgroup, the [CT]-[GG] diplotype was more common. In the CLO subgroup, only two diplotypes ([CC]-[GA] and [CC]-[GG]) were found, both of which were more common than in the comparison group (75% and 25%).. It is likely that these results for the CLO and CPO subgroups were influenced by the small size of both samples. Unlike the NSCL/P and CLP groups, in these samples, diplotypes with the homozygous genotype GG (rs861019) without the homozygous genotype TT (rs2235371) were more common. Diplotypes with a homozygous genotype of the TT risk allele were not found in the studied groups except for the comparison group, where the [TT]-[AA] diplotype was represented by a low frequency (0.17%). Conclusion: The present study provides strong statistical support (for the first time to our knowledge) that genetic variants of the IRF6 rs861019 SNP are associated with NSCL/P in Yakuts.

scholarly journals MTHFR and MDR1 Gene Polymorphisms in Yakut Patients with Non-Syndromic Orofacial Clefts

2021 ◽  
Vol 11 (4) ◽  
pp. 576-580
Author(s):  
Aleksandra Diakonova ◽  
Nadezhda Pavlova ◽  
Vladislav Alekseev ◽  
Lyubov Mironova ◽  
Khariton Kurtanov ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Gene Polymorphisms ◽  
Cleft Lip ◽  
Significant Risk ◽  
Rflp Analysis ◽  
Recessive Model ◽  
Mthfr Gene ◽  
Homozygous Genotype ◽  
Increased Risk ◽  
The Republic

The aim of our study was to investigate the relationship between the MDR1 and MTHFR gene polymorphisms and non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Yakut population in the Republic of Sakha (Yakutia). Methods and Results: The sample of examined persons consisted of 60 children with NSCL/P. The NSCL/P group was divided into the CLP (cleft lip with cleft palate) subgroup (n=31), CLO (cleft lip only) subgroup (n=14), and CPO (cleft palate only) subgroup (n=15). The comparison group (control) included 174 healthy volunteers who did not have relatives with OFCs. The study of the MDR1 rs1045642 SNP and the MTHFR rs1801133 SNP was performed by PCR and RFLP analysis. Analysis of the frequency distribution of alleles and genotypes depending on the severity of clefts showed that the carriage of the TT homozygous genotype of the MDR1 rs1045642 SNP was associated with significant risk for the development of NSCL/P (OR=2.52, 95% CI: 1.19-5.32, P=0.02). Analysis of the recessive model (TT vs CC + TC) also found a significant risk of NSCL/P with the TT genotype carriage (OR=2.20, 95% CI: 1.06-4.57, P=0.04). Analysis of the over-dominant model (TC vs TT + CC) showed that the heterozygous TC genotype had a protective effect (OR=0.41; 95% CI: 0.22-0.77, P=0.01) on the development of NSCL/P. Subgroup analysis according to NSCL/P subtypes (CLO, CPO and CLP) showed that the MDR1 rs1045642 SNP was significantly associated with a high risk of CPO in three genetic models: heterozygous [(TT vs TC): OR=5.03; 95% CI: 1.55-16.32; P=0.01], recessive [(TT vs CC + TC): OR=3.96; 95% CI: 1.32-11.95; P=0.02], and over-dominant [(TC vs TT + CC): OR=0.23; 95% CI: 0.08-0.66; P=0.01]. Conclusion: A study of two SNPs in the MDR1and MTHFR genes revealed a statistically significant increased risk for NSCL/P in carriers of the TT genotype of the MDR1 rs1045642 SNP.

A Comparative Study of Prespeech Vocalizations in Two Groups of Toddlers with Cleft Palate and a Noncleft Group

2000 ◽  
Vol 37 (2) ◽  
pp. 172-178 ◽  
Author(s):  
Elisabeth Willadsen ◽  
Hans Enemark
Keyword(s):  
Mental Retardation ◽  
Retrospective Study ◽  
Cleft Palate ◽  
Hard Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Comparison Group ◽  
Place Of Articulation ◽  
Delayed Closure ◽  
Palatal Surgery

Objective This study examined the prelinguistic contoid (consonant-like) inventories of 14 children with unilateral cleft lip and palate (C-UCLP) at 13 months of age. The children had received primary veloplasty at 7 months of age and closure of the hard palate was performed at 3–5 years. The results of this investigation were compared to results previously reported for 19 children with cleft palate and 19 noncleft children at the age of 13 months. The children with clefts in that study received a two-stage palatal surgery. This surgical procedure was formerly used at our center and included closure of the lip and hard palate at 3 months of age and soft palate closure at 22 months of age. Design Retrospective study. Setting The participants were videorecorded in their homes during play with their mothers. The videotapes were transcribed independently by three trained speech pathologists. Patients Fourteen consecutive patients born with C-UCLP and no known mental retardation or associated syndromes served as subjects. Results The children who received delayed closure of the hard palate demonstrated a significantly richer variety of contoids in their prespeech vocalizations than the cleft children in the comparison group. Both groups of subjects with clefts had significantly fewer plosives in their contoid inventory than the noncleft group, and there was no difference regarding place of articulation between the group that received delayed closure of the hard palate and the noncleft group.

scholarly journals Kajian faktor-faktor yang berhubungan dengan skor nasalance pada pasien celah palatum

2016 ◽  
Vol 45 (2) ◽  
pp. 131
Author(s):  
Duhita Yassi ◽  
Dini Widiarni ◽  
Tri Juda Airlangga ◽  
Lestaria Aryanti ◽  
Muchtarudin Mansyur
Keyword(s):  
Cleft Palate ◽  
Otitis Media ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Otitis Media With Effusion ◽  
Group Analysis ◽  
Cross Sectional ◽  
Purposive Sampling ◽  
Significant Difference ◽  
The Mean

Latar belakang: Celah bibir dan palatum merupakan kelainan proses pertumbuhan area orofasial yang menimbulkan permasalahan kompleks. Penelitian ini menitikberatkan permasalahanyang terkait dengan fungsi bicara. Tujuan: Penelitian ini melaporkan gambaran skor nasalance padacelah palatum, hubungan antara skor nasalance percontoh celah palatum dan tanpa celah palatum sertafaktor-faktor yang berhubungan dengan skor nasalance. Metode: Desain penelitian adalah comparativecross sectional. Pengambilan percontoh dilakukan dengan purposive sampling. Dilakukan wawancara,pengisian kuesioner, pemeriksaan THT, audiometri, timpanometri, nasoendoskopi, dan nasometri.Hasil: Didapatkan gambaran rerata skor nasalance percontoh celah palatum. Terdapat  perbedaanbermakna antara skor nasalance percontoh celah palatum dan tanpa celah palatum pada Uji Gajah danUji Hantu (p<0,001). Pada analisis multivariat secara keseluruhan faktor-faktor yang berhubungandengan skor nasalance (adenoid, otitis media efusi, serta gangguan pendengaran) dan keberadaancelah palatum berpengaruh secara signifikan terhadap skor nasalance untuk semua uji nasalance(p<0,05) pada pengujian terhadap kedua kelompok percontoh. Bila dilihat secara parsial faktor adenoidberpengaruh secara signifikan terhadap skor semua uji nasalance baik pada analisis kedua kelompokpercontoh maupun pada percontoh celah palatum saja. Kesimpulan: Rerata skor nasalance kelompokcelah palatum lebih tinggi daripada kelompok tanpa celah palatum. Didapatkan peran faktor yangberpengaruh terhadap skor nasalance, khususnya adenoid. Diperlukan penelitian lebih lanjut terhadappercontoh sesudah operasi sehingga bisa dijadikan sebagai evaluasi terhadap keberhasilan tindakan. Kata kunci: celah palatum, skor nasalance, tonsil, adenoid, otitis media efusi, gangguan pendengaran ABSTRACTBackground: Cleft lip and palate is an orofacial malformation and associated with many problems. This study concerned in speech problem in cleft palate patients. Purpose: This study reportednasalance score in cleft palate patients, the correlation between nasalance score in cleft palate and noncleft palate groups and also some factors related with nasalance score in cleft palate patients. Methods:The design of this study was comparative cross sectional, with purposive sampling. Data was collectedwith interview, questioner apllication, ENT examination, audiometry, tympanometry, nasoendoscopy,and nasometry. Results: The result of this study reported the mean of nasalance score in cleft palatepatients. There was significant difference in nasalance score between cleft palate and non cleft palatepatients in Uji Gajah and Uji Hantu (p>0,05). In multivariate analysis, in general the factors relatedwith nasalance score (adenoid, otitis media with effusion, and hearing loss) and cleft palate  itself weresignificantly correlated with nasalance score in all nasalance test (p<0,05) in both groups analysis butno signifficant correlation in cleft palate group analysis. Partially, adenoid  was significantly correlated in both group analysis and cleft palate group analysis. Conclusion: The mean of nasalance score incleft palate group was higher than non cleft group. Some factors in this study, especially adenoid had corelations with nasalance score. It needs further study to evaluate the nasalance score patients withcleft palate after surgery to compare the results. Keywords: cleft palate, nasalance score, tonsil, adenoid, otitis media with effusion, hearing disturbance

scholarly journals Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate

2017 ◽  
Vol 173 (6) ◽  
pp. 1531-1538 ◽  
Author(s):  
Elizabeth J. Leslie ◽  
Jenna C. Carlson ◽  
John R. Shaffer ◽  
Carmen J. Buxó ◽  
Eduardo E. Castilla ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Association Studies ◽  
Low Frequency ◽  
Frequency Coding ◽  
Coding Variants

Association of WNT Pathway Genes With Nonsyndromic Cleft Lip With or Without Cleft Palate

2017 ◽  
Vol 55 (3) ◽  
pp. 335-341 ◽  
Author(s):  
V. Vijayan ◽  
R. Ummer ◽  
R. Weber ◽  
R. Silva ◽  
A. Letra
Keyword(s):  
Cleft Palate ◽  
In Silico ◽  
Cleft Lip ◽  
Wnt Pathway ◽  
In Silico Analysis ◽  
Fisher Exact Test ◽  
Nucleotide Polymorphisms ◽  
Data Set ◽  
Unrelated Control ◽  
Silico Analysis

Objective: Nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a common craniofacial anomaly with multifactorial etiology. Evidence suggests that variations in WNT pathway genes contribute to an increased susceptibility to NSCL±P. The aim of this study was to investigate the association of AXIN1, APC, CTNNB1, DVL2, and GSK3β gene variants with NSCL±P in a case-control data set from Brazil. Patients: 471 individuals with NSCL±P and 504 unrelated control individuals of Caucasian ethnicity. Design: Twenty single-nucleotide polymorphisms (SNPs) in/nearby AXIN1, APC, CTNNB1, DVL2, and GSK3B genes were genotyped using Taqman chemistry in a Viia7 sequence detection instrument. Genotype, allele, and haplotype frequencies were compared among NSCL±P patients and controls using Fisher exact test, implemented in PLINK software. The level of significance was established at P ≤.002 under Bonferroni correction. In silico analysis of SNP function was assessed using MirSNP database. Results: Significant association was found between GSK3B rs13314595 genotypes and NSCL±P ( P = .0006). Additionally, nominal associations were found between DVL2 (rs35594616) and APC (rs448475) with NSCL±P ( P = .02 and P = .03, respectively). SNP haplotypes for GSK3B and APC genes showed nominal associations with NSCL±P ( P < .05). In silico analysis predicted that APC rs448475 harbors a binding site for the microRNA miR-617 and that the switch from a G allele to C allele enhances binding, whereas DVL2 rs35594616 did not appear to harbor microRNA-binding sites. Conclusion: This study shows for the first time the association between GSK3B and NSCL±P and confirms the role of additional WNT pathway genes as candidates for NSCL±P.

Australian Orthodontists Utilization and Attitude Toward a Government Funded Cleft Scheme

2021 ◽  
pp. 105566562198912
Author(s):  
Morgan Wishney ◽  
Aziz Sahu-Khan ◽  
Peter Petocz ◽  
M. Ali Darendeliler ◽  
Alexandra K. Papadopoulou
Keyword(s):  
Cleft Palate ◽  
Online Survey ◽  
Cleft Lip ◽  
Training Programs ◽  
Capital City ◽  
Australian Society ◽  
Capital Cities ◽  
The Past ◽  
Orthodontic Training ◽  
University Training

Objectives: To (1) survey Australian orthodontists about their involvement with a government-funded scheme for patients with clefts, the Medicare Cleft Lip and Cleft Palate Scheme (MCLCPS) and (2) investigate their attitude toward treating patients with clefts and their training in this respect. Design: A 13-question online survey was distributed to members of the Australian Society of Orthodontists. The survey gathered information regarding respondent demographics, the number of MCLCPS-eligible patients seen in the past 12 months and usual billing practices. Results: A total of 96 complete responses were obtained. About 70% of respondents had treated MCLCPS-eligible patients in the past 12 months and 55% saw between 2 and 5 patients during this time. The likelihood of treating patients with clefts increased by a factor of 4.8 (95% CI: 1.2-18.9) if practicing outside of a capital city and 1.5 times for each decade increase in orthodontist’s age (95% CI: 1.0-2.2). The MCLCPS was utilized by 81% of orthodontists with 26% of these respondents accepting rebate only. Most orthodontists felt their university training could have better prepared them to treat patients with clefts. A minority of orthodontists felt that a rebate increase would make them more likely to treat these patients. Conclusions: Australian orthodontists who treat patients with clefts tend to be older and work outside of capital cities. The decision to treat these patients tends to not be financially motived. Specialty orthodontic training programs could improve the preparedness of their graduates to treat patients with clefts.

Prevalence of Reading Difficulties in 9- to 10-Year Old Children in Sweden Born With Cleft Palate

2021 ◽  
pp. 105566562110132
Author(s):  
Justin Parry Weinfeld ◽  
Jakob Åsberg Johnels ◽  
Christina Persson
Keyword(s):  
General Population ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Reading Difficulties ◽  
Learning Problems ◽  
Study Group ◽  
Cross Sectional ◽  
Parental Questionnaire ◽  
Background Data ◽  
Cross Sectional Design

Objective: To investigate the prevalence of reading difficulties in children born with cleft palate at ages 9 and 10 in Sweden. Design: Using a cross-sectional design, a parental questionnaire assessing dyslexia-like reading difficulties (Short Dyslexia Scale, SDS) was administered together with separate questions regarding background data. Participants: Families with a child born with overt cleft palate with or without cleft lip in 4 regions of Sweden. A total of 245 families were approached of which 138 families responded. Data from 136 (56%) were complete with information on cleft type and could be analyzed. Results: Twenty-two percent (95% CI, 15-30) of the whole study group displayed risk for dyslexic reading difficulties on the SDS corresponding to the 7th to 10th percentiles in the population. Children with cleft palate only had a significantly higher prevalence of reading difficulties (37%) compared to children with unilateral cleft palate (19%) and bilateral cleft palate (10%). The frequency of reading difficulties in participants with comorbidity was 32%. Among a subgroup with reported comorbidity in areas of attention, language, and learning problems, there was a 2.5 times higher risk of reading disability compared to participants without this reported comorbidity. Conclusion: The prevalence of reading difficulties in the cleft palate population was higher than in the general population. Results showed that co-occurring difficulties were common in the cleft group and that reading difficulties often appear together with other, co-occurring neurodevelopmental difficulties.

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