Analysis of the candidate genes responsible for non-syndromic cleft lip and palate in Japanese people

2000 ◽  
Vol 99 (2) ◽  
pp. 105-111 ◽  
Author(s):  
Atsuko TANABE ◽  
Shigeru TAKETANI ◽  
Yoko ENDO-ICHIKAWA ◽  
Rikio TOKUNAGA ◽  
Yutaka OGAWA ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Candidate Genes ◽  
Cleft Lip ◽  
Transforming Growth Factor ◽  
Cleft Lip And Palate ◽  
Control Group ◽  
Case Group ◽  
Coding Region ◽  
Transforming Growth Factor Α ◽  
Significant Difference

In order to assess the association of alleles for candidate genes with non-syndromic cleft lip and palate, DNA samples from 43 Japanese patients were compared with those from 73 control subjects with respect to the genes encoding transforming growth factor α (TGFα), TGFβ and γ-aminobutyric acid type A receptor β3 (GABRB3). The restriction fragment length polymorphisms of the 3′-non-coding region of the TGFα gene K-primer region were observed after digestion with NcoI and HinfI. Allele 4 was the most common among cases of cleft lip with or without cleft palate, whereas allele 2 was the most common among controls. A significant difference was found in this region between groups with cleft lip (with or without cleft palate) and controls (χ2 = 10.190; P = 0.017). Three alleles of the TGFβ2 gene were tested, and allele 2 was the most common in both cases and controls. The proportion of allele 2 in the case group was greater than that in the control group, showing a significant difference between cases of cleft lip (with or without cleft palate) and controls (χ2 = 19.208; P < 0.0001). No significant differences in variants of TGFβ3 or GABRB3 between case and control populations were observed. Thus it is concluded that TGF genes play a role in craniofacial development, and that alleles of TGFα or/and TGFβ2 are associated with cleft lip and cleft palate in Japanese populations.

scholarly journals Development of cleft children’s permanent canines

2019 ◽  
Vol 67 ◽  
Author(s):  
Manoel Itaguacy Leite NOVAIS JUNIOR ◽  
Manuella Santos Carneiro ALMEIDA ◽  
Camila Helena Machado da COSTA ◽  
Tassia Cristina de Almeida Pinto SARMENTO ◽  
Luis Ferreira de SOUSA FILHO ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Tooth Development ◽  
Cross Sectional Study ◽  
Control Group ◽  
Case Group ◽  
Age Difference ◽  
Cross Sectional ◽  
Panoramic Radiographs ◽  
Significant Difference

ABSTRACT Objective: Evaluating the development of the permanent cuspids in children from Paraíba with cleft lip and palate applying the Nolla and the Demirjian methods. Methods: A cross-sectional study using an inductive approach and applying a comparative statistical procedure and direct documentation research technique. The universe of the study consisted of children assisted at the orthodontic practice of the Brazilian Association of Dentistry - Paraíba Section. The sample comprised 72 pairs of panoramic radiographs of children with and without cleft lip and palate from the same gender and, age difference of up to 30 days, ranging from 5 to 13 years of age. The study has evaluated the development of 576 cuspids. The images were evaluated by three duly calibrated examiners concomitantly, and the calcification stages were determined by a consensus. The stages of the cuspids calcification were evaluated in the panoramic radiographs according to Nolla and Demirjian classifications. Results: The average of the calcification stage of teeth was correspondingly higher in the control group than in the case group, showing a development delay of the cuspid teeth in the cleft lip and palate patients. The lower cuspids were significantly more developed than the upper cuspids (p <0.001). There were no significant differences between the sides. There was early tooth development in females but without significant difference. Conclusion: It was possible to note that patients with cleft lip and palate presented a delay in the development of the permanent cuspids when compared to non-cleft lip and palate patients, thus, reinforcing the importance of the individualization of the orthodontic planning.

scholarly journals Genetic Association Studies of Cleft Lip and/or Palate with Hypodontia outside the Cleft Region

2003 ◽  
Vol 40 (3) ◽  
pp. 274-279 ◽  
Author(s):  
Rebecca L. Slayton ◽  
Laura Williams ◽  
Jeffrey C. Murray ◽  
James J. Wheeler ◽  
Andrew C. Lidral ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Candidate Genes ◽  
Cleft Lip ◽  
Transforming Growth Factor ◽  
Cleft Lip And Palate ◽  
Association Studies ◽  
Polymorphism Analysis ◽  
Missing Teeth ◽  
Orofacial Clefting ◽  
Genotype Information

Objective The purpose of this study was to determine whether the candidate genes previously studied in subjects with cleft lip, cleft palate, or both are associated with hypodontia outside the region of the cleft. Subjects One hundred twenty subjects from the Iowa Craniofacial Anomalies Research Center were selected based on the availability of both dental records and genotype information. Method The type of orofacial clefting and type and location of dental anomalies (missing teeth, supernumerary teeth, or peg laterals) were assessed by dental chart review and radiographic examination. Genotype analysis of candidate genes was performed using polymerase chain reaction/single-strand conformation polymorphism analysis. Results The prevalence of hypodontia in this sample was 47.5%, with 30.0% of subjects having missing teeth outside the cleft. There was a positive association between subjects with cleft lip or cleft lip and palate who had hypodontia outside the cleft region (compared with noncleft controls) and both muscle segment homeo box homolog 1 (MSX1) (p = .029) and transforming growth factor beta 3 (TGFB3) (p = .024). It was not possible in this analysis to determine whether this association was specifically associated with orofacial clefting combined with hypodontia or whether it was due primarily to the clefting phenotype. Conclusions In this sample, there was a significantly greater incidence of hypodontia outside the cleft region in subjects with cleft lip and palate, compared with cleft lip only or cleft palate only. Cleft lip and/or palate with hypodontia outside the cleft region was positively associated with both TGFB3 and MSX1, compared with noncleft controls.

Prevalence of Hypodontia in Unilateral and Bilateral Cleft Lip and Palate Patients Inside and Outside Cleft Area: A Case-Control Study

2019 ◽  
Vol 43 (2) ◽  
pp. 126-130 ◽  
Author(s):  
Alberto De Stefani ◽  
Giovanni Bruno ◽  
Paolo Balasso ◽  
Sergio Mazzoleni ◽  
Ugo Baciliero ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Descriptive Analysis ◽  
Control Sample ◽  
Control Group ◽  
Dental Arch ◽  
Case Group ◽  
Italian Population ◽  
Control Groups ◽  
Significant Difference

Objectives: The aim of this study is to evaluate the prevalence and distribution of hypodontia, inside and outside the cleft area, in an Italian population with a non-syndromic unilateral (UCLP) and bilateral (BCLP) cleft lip and palate on panoramic radiographs and comparing it with a control sample. Study design: Case group was ethnically uniform and consisted in 233 patients. The control group was composed of 1000 subjects. Patients included were between seven and fifteen years old. Descriptive analysis, using absolute and relative frequencies, was performed to check out the prevalence of gender distribution, hypodontia and cleft formation. Statistical analysis was conducted with Chi-squared test, Yate's correction and the Fisher's exact test. The power was set higher than 0.8 for each test. Results: 160 cleft patients (68.68%) presented at least one missing tooth, while 88 patients in the control groups presented agenesis (8.80%). A statistically significant difference was found in case and control groups for upper lateral incisors (37.34% and 48.07% in the case group against 2.50% and 2.60% in the control group), upper and lower second premolars (8.58%, 6.44%, 5.58% and 6.01% in the cleft group and 0.60%, 0.60%, 2.50% and 2.70% in the control group). Conclusion: Higher prevalence of dental agenesis in the maxillary dental arch is explained by the cleft defect. Higher prevalence of mandibular second premolars agenesis cannot be explained by the anatomical defect and suggests a multifactorial aetiology, including environmental and genetic factors, of the cleft condition.

Perceptual Speech Outcomes After Early Primary Palatal Repair in Ugandan Patients With Cleft Palate

2020 ◽  
pp. 105566562098024
Author(s):  
Kim Bettens ◽  
Laura Bruneel ◽  
Cassandra Alighieri ◽  
Daniel Sseremba ◽  
Duncan Musasizib ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Speech Therapy ◽  
Cleft Lip And Palate ◽  
Control Group ◽  
English Speaking ◽  
And Gender ◽  
Early Primary ◽  
Velopharyngeal Function ◽  
Normal Speech

Objective: To provide speech outcomes of English-speaking Ugandan patients with a cleft palate with or without cleft lip (CP±L). Design: Prospective case–control study. Setting: Referral hospital for patients with cleft lip and palate in Uganda. Participants: Twenty-four English-speaking Ugandan children with a CP±L (15 boys, 9 girls, mean 8.4 years) who received palatal closure prior to 6 months of age and an age- and gender-matched control group of Ugandan children without cleft palate. Interventions: Comparison of speech outcomes of the patient and control group. Main Outcome Measures: Perceptual speech outcomes including articulation, resonance, speech understandability and acceptability, and velopharyngeal composite score (VPC-sum). Information regarding speech therapy, fistula rate, and secondary surgery. Results: Normal speech understandability was observed in 42% of the patients, and 38% were judged with normal speech acceptability. Only 16% showed compensatory articulation. Acceptable resonance was found in 71%, and 75% of the patients were judged perceptually to present with competent velopharyngeal function based on the VPC-sum. Additional speech intervention was recommended in 25% of the patients. Statistically significant differences for all these variables were still observed with the control children ( P < .05). Conclusions: Overall, acceptable speech outcomes were found after early primary palatal closure. Comparable or even better results were found in comparison with international benchmarks, especially regarding the presence of compensatory articulation. Whether this approach is transferable to Western countries is the subject for further research.

scholarly journals MOLECULAR GENETIC STUDY OF THE IMPACT OF SNP C677T OF THE GENE MTHFR IN THE DEVELOPMENT OF CONGENITAL ISOLATED CLEFT LIP AND PALATE

2018 ◽  
Vol 25 (5) ◽  
pp. 104-110
Author(s):  
V. S. Uchaeva ◽  
Yu. A. Vasiliev ◽  
A. S. Gracheva ◽  
O. V. Gulenko ◽  
I. G. Udina
Keyword(s):  
Genetic Study ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Control Group ◽  
Population Genetic Study ◽  
Molecular Genetic Study ◽  
Increased Risk ◽  
Significant Difference ◽  
Congenital Cleft ◽  
The Impact

Aim. This research was designed to conduct an associative population genetic study for the consideration of the impact of SNP C677T of the gene MTHFR in the congenital maxillofacial developmental anomalies (CMDA): congenital cleft lip (CCL), congenital cleft palate (CCP), congenital cleft lip and palate (CCLP) in the Krasnodar territory. The aim of the study is to establish the associations between SNP C677T of the gene MTHFR and the development of congenital cleft lip and/ or palate.Materials and methods. In this research, the peculiarities of distribution of SNP C667T of the gene MTHFR in children with congenital cleft lip and/or palate (n=223) and their mothers (n=78) in comparison with the control group (n=124) were studied in the Krasnodar territory. The genetic demographic questionnaires were gathered for children with CMDA, the information about diagnosis was obtained from the medical records. The biological samples, including blood or scrapings of oral mucosa, were collected from children with the pathology and their mothers. The DNA was extracted from the samples by the standard method. The study of the peculiarities of distribution of alleles of SNP C677T of the gene MTHFR was performed by PCR-PFLP with endonuclease Hinf I or by tetra-primer ARMS-PCR method in children with CCL, CCP, CCLP, their mothers and the control group. Statistical processing of the obtained data was performed by the algorithms of the “Statistica” program.Results. While comparing the profiles of frequencies of SNP C677T in children with CCL, CCP and CCLP with the control group, there were identified no significant differences in the frequency of this SNP and no peculiarities of genotypes distribution. There was identified a significant difference in the peculiarities of genotypes distribution with the control group (G=19,5232, d.f.=1, p<0,001) as well as united genotypes (С/C и С/T) in accordance to T/T (G=10,4657, d.f.=1; p<0,001) and united genotypes (C/T и T/T) in accordance to C/C (G=15,1896, d.f.=1, p<0,001) for the mothers of children with CCL, CCP and CCLP.Conclusion. As a result of the study, we established the association of SNP C677T of the MTHFR gene with the development of congenital cleft lip and/or palate: mothers’ T/T genotype is associated with the increased risk of giving birth to a child with CCL, CCP and CCLP (in comparison with mothers with C/C+C/T genotype): odds ratio [OR]=16,63, 95% CI: 3,86-71,71; p=0,0003 and also for mothers with genotypes (C/T+T/T) in comparison with mothers with genotypes C/C: OR=3,22, CI:1,71-6,08; p=0,0002. The amount of risk is not significant in children with CMDA for T/T genotype. So it is possible to make a conclusion about the impact of C677T of the gene MTHFR in the development of CCL, CCP and CCLP only in mother’s genotype. 

scholarly journals ASSESSMENT OF PRESURGICAL NASOALVEOLAR MOULDING (PNAM) IN UNILATERAL CLEFT LIP AND PALATE

2020 ◽  
Vol 4 (11) ◽  
Author(s):  
Santosh Kumar
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Intervention Group ◽  
Control Group ◽  
Width Ratio ◽  
Long Term Effects ◽  
Important Indicator ◽  
Medical College ◽  
Significant Difference ◽  
Nasoalveolar Molding

Background: Midface symmetry is an important indicator of success of complete unilateral cleft lip and palate (CUCLP) treatment. There is little literature on the long-term effects of Presurgical Nasoalveolar Molding (PNAM) on Midface symmetry in children treated for CUCLP. Material and Methods: This case-control study was carried out in the Department of Burn and Plastic Surgery at Government Medical College and Hospital, Bettiah, Bihar, India from may 2018 to Dec 2019. Complete unilateral CL+P patients had basilar and frontal photographs at two time points: (1) initial (2) postsurgical. 30 nasal molding patients and 20 control patients were included. Presurgical nasal molding was performed prior to primary lip repair in intervention group. No nasal molding was performed in control group. Results: A statistically significant difference was found for postsurgical nostril height-width ratio (P< .05). No other statistically significant differences were found. Conclusion: Nasal molding and surgery resulted in more symmetrical nostril height-width ratios than surgery alone. Alar groove ratios were not statistically significantly different between groups perhaps because application of nasal molding was not early enough; postsurgical nasal splints were not utilized; overcorrection was not performed for nasal molding

Objective, Noninvasive Evaluation of Velopharyngeal Function in Cleft and Noncleft Patients

1998 ◽  
Vol 35 (1) ◽  
pp. 35-39 ◽  
Author(s):  
Martin Kunkel ◽  
Ulrich Wahlmann ◽  
Wilfried Wagner
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Noninvasive Evaluation ◽  
Control Group ◽  
Pharyngeal Muscles ◽  
Pharyngeal Flap ◽  
The Difference ◽  
Acoustic Pharyngometry ◽  
Velopharyngeal Function

Objective The purpose of this study was to investigate a new diagnostic method that provides an approach to noninvasive, objective measurement of velopharyngeal movement by acoustic determination of epipharyngeal volume changes with velopharyngeal muscle function. Design This was a case control study, using consecutive samples. Setting This study took place at the Cleft Palate Rehabilitation Center of the University of Mainz, Germany. Patients Subjects were 29 consecutive cleft lip and palate (CLP) patients and 31 controls (21 patients with dysgnathia and 10 healthy volunteers). Intervention A series of transnasal acoustic measurements (pressure wave: 55 dB for 2 milliseconds) of epipharyngeal volume were performed with the pharyngeal muscles relaxed in end-expiration and while the velopharyngeal orifice was closed, with the difference in volume representing maximal pharyngeal movement. Results Cleft palate patients yielded significantly lower values of velopharyngeal movement (6.5 cm3) than did the control group (8.0 cm3)(p < .05; Mann-Whitney U test). Overlapping ranges of values were measured for the C(L)P and control groups. The least mobility (4.75 cm3) was measured in patients who had undergone pharyngeal flap surgery. Different patterns of restriction were observed in patients with and without a pharyngeal flap. Conclusion Acoustic pharyngometry may provide access to noninvasive quantitative measurement of velopharyngeal movement and a better understanding of the pattern of movement in C(L)P-patients. We expect it to be a helpful tool in objectively monitoring the progress of logopedic therapy.

Nasal Airflow Patterns during the Velopharyngeal Closing Phase in Speech in Children with and without Cleft Palate

2001 ◽  
Vol 38 (4) ◽  
pp. 358-373 ◽  
Author(s):  
Hans Dotevall ◽  
Hasse Ejnell ◽  
Björn Bake
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Stop Consonant ◽  
Maximum Flow ◽  
University Hospital ◽  
Control Group ◽  
Consecutive Series ◽  
Nasal Airflow ◽  
Cross Sectional

Objectives: (1) To study the nasal airflow patterns during the velopharyngeal closing phase in speech produced by children with and without cleft palate. (2) To compare the nasal airflow patterns in bilabial, dental, and velar articulation in these children. Design: Prospective, cross-sectional study of a consecutive series of children with cleft palate referred for routine speech evaluation and controls. Setting: Sahlgrenska University Hospital, Göteborg, Sweden. Participants: Seventeen children with cleft lip and palate or cleft palate only and 22 controls aged 7 and 10 years. Method: Nasal airflow was transduced with a pneumotachograph attached to a nose mask and registered together with the acoustic speech signal. Sentences containing nasal-to-stop combinations in bilabial, dental, and velar articulatory positions were used. Main Outcomes Measures: The duration from peak to 5% nasal airflow, the maximum flow declination rate, and the nasal airflow at selected points in time during the transition from nasal-to-stop consonants. Results: In the cleft palate group, duration from peak to 5% nasal airflow was clearly longer than among the controls (p < .0001). The declination of airflow was slower (p < .006) and the rate of nasal airflow at the release of the stop consonant was higher (p < .004) in the cleft palate group. Differences between bilabial versus dental and velar articulation were found in the control group. Conclusion: Studies of the temporal and dynamic characteristics of the nasal airflow variations during speech appear potentially useful for the assessment of velopharyngeal function.

Dentoalveolar Arch Dimensions in UCLP Boys After Neonatal Cheiloplasty or After Lip Surgery at the Age of 3 or 6 Months

2019 ◽  
Vol 56 (8) ◽  
pp. 1020-1025 ◽  
Author(s):  
Magdalena Kotova ◽  
Wanda Urbanova ◽  
Andrej Sukop ◽  
Renata Peterkova ◽  
Miroslav Peterka ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Surgical Repair ◽  
Control Group ◽  
Arch Width ◽  
Cleft Palate Repair ◽  
Palate Repair ◽  
Deciduous Molars ◽  
Plaster Casts

Objective: To compare the influence of 3 different time protocols of cleft lip and palate operations on the growth of the dentoalveolar arch in patients with unilateral cleft lip and palate (UCLP). Materials and Methods: We evaluated 64 plaster casts of 8-year-old boys with UCLP operated on according to 3 different time protocols: lip repair at the age of 6 months and palate repair at 4 years, lip repair at 3 months and palate repair at 9 months, and neonatal lip repair and palate repair at 9 months. The control group contained 13 plaster casts of 8-year-old boys. The dentoalveolar arch width was measured between deciduous canines and between the second deciduous molars; the length was measured between incisive papilla and the line connecting both tuber maxillae. Results: All measured distances were statistically significantly smaller in boys with UCLP than in the control group. Intercanine width was not statistically significantly different between the patients operated on according to the different time protocols. In comparison to the lip repair at 6 months and palate repair at 4 years, the intermolar width was statistically significantly smaller in the group with neonatal lip repair; the alveolar arch length was statistically significantly shorter in both groups with lip repair performed neonatally or at 3 months. Conclusions: The length of the dentoalveolar arch is shorter after surgical repair of cleft lip neonatally or at the age of 3 months. Cleft palate repair at 9 months can contribute to a reduction in the width of the dentoalveolar arch.

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