scholarly journals FOXE1 mutations in Thai patients with oral clefts

2013 ◽  
Vol 95 (5) ◽  
pp. 133-137 ◽  
Author(s):  
CHALURMPON SRICHOMTHONG ◽  
RUNGNAPA ITTIWUT ◽  
PICHIT SIRIWAN ◽  
KANYA SUPHAPEETIPORN ◽  
VORASUK SHOTELERSUK
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Cleft Lip ◽  
Genetic Factors ◽  
Heterozygous State ◽  
Coding Region ◽  
Thai Population ◽  
Oral Clefts ◽  
Pcr Rflp ◽  
Genotype A

SummaryNon-syndromic oral clefts comprising cleft lip with and without cleft palate (CL/P) and cleft palate only (CPO) are common birth defects worldwide. Their aetiology involves both environmental and genetic factors. FOXE1 has previously been reported to be associated with oral clefts in some populations. Here, we investigate whether mutations in FOXE1 play a part in the formation of oral cleft in a Thai population. We first performed PCR–RFLP to genotype a previously reported associated polymorphism, c.-1204C > G (rs111846096), in our cohort. No association was found. In addition, two unrelated unaffected controls were found to be homozygous GG, indicating that homozygous GG at this c.-1204 position was not sufficient for the development of oral clefts. We then sequenced the entire coding region of FOXE1 in 458 unrelated individuals (146 CPOs, 108 CL/Ps and 204 Thai controls). Five different non-synonymous variants, c.274G > T (p.D92Y), c.569C > G (p.P190R), c.569C > T (p.P190L), c.664C > T (p.R222C) and c.1090G > A (p.G364S), were identified in CPOs and one, c.572C > G (p.P191R), in CL/P. All these six variants were in heterozygous state, each identified in one patient, and absent in 204 controls. Except the p.P190R, which was previously reported, the other five variants were novel. Our study identifies probable susceptibility variants of FOXE1 for oral clefts in the Thai population.

Structural Birth Defects Associated with Oral Clefts in Hawaii, 1986 to 2001

2006 ◽  
Vol 43 (3) ◽  
pp. 356-362 ◽  
Author(s):  
Mathias B. Forrester ◽  
Ruth D. Merz
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Cleft Lip ◽  
Single Ventricle ◽  
Lower Limbs ◽  
Upper Limbs ◽  
Oral Clefts ◽  
Oral Cleft

Objective To identify structural birth defects that occur in association with oral clefts. Methods Data were obtained from a birth defects registry and included all infants and fetuses with cleft palate without cleft lip or cleft lip with or without cleft palate delivered from 1986 to 2001. For 47 specific structural birth defects, rates among oral cleft cases were compared with the rates among all infants and fetuses with major birth defects, excluding those with oral clefts. Results Among cleft palate only cases, the rates were significantly higher than expected for encephalocele, microcephaly, and syndactyly. Among cases of cleft lip with or without cleft palate, the rates were significantly higher than expected for anophthalmia/microphthalmia, single ventricle, reduction deformity of upper limbs, and reduction deformity of lower limbs. When cases of cleft palate only and cleft lip with or without cleft palate were compared as to the rates for particular birth defects, the rates of the defects were either higher or lower than expected in both oral cleft categories for 38 (81%) of the defects. Conclusions Certain birth defects were more frequently associated with oral clefts than might be expected. For the majority of defects, their patterns of association were similar between cleft palate without cleft lip and cleft lip with or without cleft palate.

An Epidemiologic Study of Orofacial Clefts with Other Birth Defects in Victoria, Australia

2006 ◽  
Vol 43 (5) ◽  
pp. 571-576 ◽  
Author(s):  
Linda D. Vallino-Napoli ◽  
Merilyn M. Riley ◽  
Jane L. Halliday
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Birth Defect ◽  
Cleft Lip ◽  
Epidemiologic Study ◽  
Prevalence Ratio ◽  
Chromosomal Anomalies ◽  
Oral Clefts ◽  
System Defect ◽  
Epidemiological Characteristics

Objective: To describe the epidemiological characteristics of oral clefts occurring with other birth defects in Victoria, Australia. Methods: Information on infants and fetuses reported to the Victorian Birth Defects Register from 1983 to 2000 was collected. Birth defects were classified as Pierre Robin Sequence, chromosomal anomaly, nonchromosomal syndrome, single-system defect, or multiple-system defect. Pregnancy outcome and associations with selected infant and maternal features was examined. Results: One third of the 2022 oral clefts recorded had other birth defects. There were more overall cleft cases involving multiple systems and chromosomal anomalies than any other birth defect group. The prevalence ratio of cleft lip with or without cleft palate (CL/P) was highest among multiple-system defects and chromosomal anomalies. Perinatal mortality was high, with termination of pregnancy highest in CL/P and chromosomal anomalies and multiple-system defects. There was a nonsignificant excess of clefts among multiple births. Women ≥40 years old had a tendency toward having a child with a cleft palate and another birth defect. There was an increased likelihood that women born in the U.K. would have a baby with CL/P and another birth defect. Conclusions: This is among the first reports in Victoria, Australia, describing oral clefts and other birth defects and associations between infant and maternal factors. Although some findings confirmed other population-based studies, some continued to be at variance. Nonetheless, the data derived support examination of babies diagnosed with clefts for associated comorbidities.

The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts

2020 ◽  
Vol 57 (6) ◽  
pp. 671-677 ◽  
Author(s):  
Yah-Huei Wu-Chou ◽  
Kuo-Ting Philip Chen ◽  
Yi-Chieh Lu ◽  
Yin-Ting Lin ◽  
Hsien-Fang Chang ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Strong Association ◽  
Nucleotide Polymorphisms ◽  
Test Analysis ◽  
Oral Clefts ◽  
The Family ◽  
Abca4 Gene ◽  
Family Based ◽  
New Evidence

Objective: Nonsyndromic oral clefts are common birth defect with complex etiology. In the present study, we attempt to further validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. Design: We performed allelic transmission disequilibrium test analysis, on 10 eligible single nucleotide polymorphisms (SNPs) and SNP haplotypes using the Family-Based Association Test. Participants: The study sample consisted of 334 case–parent trios of nonsyndromic oral clefts from Taiwanese population, separated into nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO) groups. Results: We found only the SNP rs560426 within the ABCA4 gene showed strong association with NSCPO ( P = .03498; Permuted P = .05382). No association between other 9 selected SNPs in ABCA4-ARHGAP29 region and the risk of nonsyndromic oral clefts was found. For the haplotype analyses, we found only haplotype T-C (rs570926 and rs3789431) in ABCA4 block 2 showed significant association with nonsyndromic NSCL/P in these Taiwanese trios. Conclusions: We used a family-based analysis in 334 Taiwanese case–parent trios to validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. This study provides a new evidence for an association between the intron variant rs560426 within ABCA4 and nonsyndromic cleft palate which may contribute their regulatory role in craniofacial development.

Birth weight and gestational age of newborns with cleft lip with or without cleft palate and with isolated cleft palate

2004 ◽  
Vol 27 (2) ◽  
pp. 185-190 ◽  
Author(s):  
Diego Wyszynski ◽  
Andrea Sarkozi ◽  
Peter Vargha ◽  
Andrew Czeizel
Keyword(s):  
Birth Weight ◽  
Cleft Palate ◽  
Gestational Age ◽  
Premature Birth ◽  
Cleft Lip ◽  
Very Low Birth Weight ◽  
Elevated Risk ◽  
Healthy Controls ◽  
Oral Clefts ◽  
Isolated Cleft Palate

The birth weight and gestational age of 1368 newborns with isolated cleft lip with or without cleft palate and 582 with isolated cleft palate were compared to those of matched healthy controls. The results indicate that fetuses with oral clefts are at elevated risk of having low and very low birth weight, but not of having a premature birth. Speculations on a relationship between these findings and the presence of oral clefts are presented.

scholarly journals Dexamethasone Suppresses Palatal Cell Proliferation through miR-130a-3p

2021 ◽  
Vol 22 (22) ◽  
pp. 12453
Author(s):  
Hiroki Yoshioka ◽  
Goo Jun ◽  
Akiko Suzuki ◽  
Junichi Iwata
Keyword(s):  
Cell Proliferation ◽  
Cleft Palate ◽  
Birth Defects ◽  
Cleft Lip ◽  
Neural Crest Cell ◽  
Congenital Birth Defects ◽  
Cranial Neural Crest Cell ◽  
Primary Mouse ◽  
Mirna Sequencing ◽  
Crest Cell

Cleft lip with or without cleft palate (CL/P) is one of the most common congenital birth defects. This study aims to identify novel pathogenic microRNAs associated with cleft palate (CP). Through data analyses of miRNA-sequencing for developing palatal shelves of C57BL/6J mice, we found that miR-449a-3p, miR-449a-5p, miR-449b, miR-449c-3p, and miR-449c-5p were significantly upregulated, and that miR-19a-3p, miR-130a-3p, miR-301a-3p, and miR-486b-5p were significantly downregulated, at embryonic day E14.5 compared to E13.5. Among them, overexpression of the miR-449 family (miR-449a-3p, miR-449a-5p, miR-449b, miR-449c-3p, and miR-449c-5p) and miR-486b-5p resulted in reduced cell proliferation in primary mouse embryonic palatal mesenchymal (MEPM) cells and mouse cranial neural crest cell line O9-1. On the other hand, inhibitors of miR-130a-3p and miR-301a-3p significantly reduced cell proliferation in MEPM and O9-1 cells. Notably, we found that treatment with dexamethasone, a glucocorticoid known to induce CP in mice, suppressed miR-130a-3p expression in both MEPM and O9-1 cells. Moreover, a miR-130a-3p mimic could ameliorate the cell proliferation defect induced by dexamethasone through normalization of Slc24a2 expression. Taken together, our results suggest that miR-130-3p plays a crucial role in dexamethasone-induced CP in mice.

Epidemiology of cleft lip with or without cleft palate in Thais

2017 ◽  
Vol 10 (4) ◽  
pp. 335-338 ◽  
Author(s):  
Rungnapa Ittiwut ◽  
Pichit Siriwan ◽  
Kanya Suphapeetiporn ◽  
Vorasuk Shotelersuk
Keyword(s):  
Family History ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Epidemiological Studies ◽  
Retrospective Case ◽  
Oral Clefts ◽  
Oral Cleft ◽  
History Of ◽  
Maternal Consumption ◽  
Genetic And Environmental Factors

Abstract Background Oral clefts, including cleft lip (CL), CL with cleft palate (CL/CP), and cleft palate only (CPO), are among the most common birth defects, and if left untreated can cause significant morbidity. Causes are complex and involve both genetic and environmental factors. Several studies have demonstrated the highest prevalence of oral clefts being in Asian, white, and African populations. However, there have been very few epidemiological studies of oral clefts in Thais. Objectives To describe the epidemiology and factors associated with oral clefts in Thais. Methods This retrospective case-control observational study included individuals from numerous regions in Thailand. We reviewed data regarding 784 patients with an oral cleft collected in questionnaires as part of the Thai nationwide Smart Smile and Speech Project from 2006 to 2014. Data regarding patients with oral clefts were analyzed, and compared with data regarding 187 unaffected controls. Results Of 784 cases, CL/CP accounted for 59.8%, CPO 21.9%, and CL 18.3%. A family history of oral clefts was detected in all 3 types (P < 0.001). Maternal use of any drugs or herbal medicine not prescribed by physicians during pregnancy in cases of CPO (P = 0.049) and maternal consumption of alcohol during pregnancy in cases of CL/CP (P = 0.047) were significantly higher than that by mothers of controls. Conclusions CL/CP is the most common type of oral cleft. A family history of oral clefts, and maternal consumption of alcohol or nonprescribed drugs are positively associated with oral clefts in Thais.

scholarly journals Prevalence of cleft lip and/or cleft palate in Guangdong province, China, 2015–2018: a spatio-temporal descriptive analysis

BMJ Open ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. e046430
Author(s):  
Yingxian Zhu ◽  
Huazhang Miao ◽  
Qinghui Zeng ◽  
Bing Li ◽  
Degang Wang ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Pearl River Delta ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Guangdong Province ◽  
Pearl River ◽  
Pearl River Delta Region ◽  
Delta Region ◽  
Spatio Temporal

ObjectivesThis study aimed to investigate the temporal and spatial characteristics of cleft lip and/or palate based on a large-scale birth defect monitoring database.MethodsData on perinatal infants and children with cleft lip and/or palate defects from 1 January 2015 to 31 December 2018 in Guangdong province of China were collected. The variables including the demographic data, basic family information (address, education level, etc.), the infant’s birth weight, gender and other basic parameters were collected and analysed.ResultsDuring the study period, the prevalence of cleft lip and/or palate was 7.55 per 10 000 perinatal infants. The prevalence of cleft lip, cleft palate and cleft lip and palate were 2.34/10 000, 2.22/10 000 and 2.98/10 000, respectively. The prevalence of cleft lip and/or palate showed a pronounced downward trend, reducing from 8.47/10 000 in 2015 to 6.51/10 000 in 2018. We observed spatial heterogeneity of prevalence of cleft lip and/or palate across the study period in Guangdong. In the Pearl River Delta region, the overall prevalence of cleft lip and/or palate was 7.31/10 000, while the figure (7.86/10 000) was slightly higher in the non-Pearl River Delta region (p<0.05). Concerning infant gender, the prevalence was in general higher in boys than girls (p<0.05). In addition, the higher prevalence was more common in mothers older than 35 years old. For the birth season, infants born in spring tended to have a higher prevalence than those born in other seasons, regardless of the prevalence of cleft lip and palate calculated separately or jointly (p<0.05). The majority of newborns with cleft lip and palate were accompanied by other birth defects.ConclusionThis study contributes a better understanding of the characteristics of spatio-temporal trends for birth defects of cleft lip and/or palate in south China.

Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate

2021 ◽  
pp. 105566562110100
Author(s):  
Maria Luisa Navarro Sanchez ◽  
Renata H. Benjamin ◽  
Laura E. Mitchell ◽  
Peter H. Langlois ◽  
Mark A. Canfield ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Birth Defect ◽  
Cleft Lip ◽  
Population Based ◽  
Orofacial Clefts ◽  
Developmental Mechanisms ◽  
Using Data ◽  
Occurrence Patterns ◽  
Population Based Registry

Objective: To investigate 2- to 5-way patterns of defects co-occurring with orofacial clefts using data from a population-based registry. Design: We used data from the Texas Birth Defects Registry for deliveries between 1999 and 2014 to Texas residents, including 1884 cases with cleft palate (CP) and 5289 cases with cleft lip with or without cleft palate (CL±P) without a known syndrome. We identified patterns of defects co-occurring with CP and with CL±P observed more frequently than would be expected if these defects occurred independently. We calculated adjusted observed-to-expected ( O/ E) ratios to account for the known tendency of birth defects to cluster nonspecifically. Results: Among infants without a syndrome, 23% with CP and 21% with CL±P had at least 1 additional congenital anomaly. Several combinations of defects were observed much more often than expected. For example, the combination of CL±P, congenital hydrocephaly, anophthalmia, and other nose anomalies had an O/ E ratio of 605. For both CP and CL±P, co-occurrence patterns with the highest O/ E ratios involved craniofacial and brain abnormalities, and many included the skeletal, cardiovascular, and renal systems. Conclusions: The patterns of defects we observed co-occurring with clefts more often than expected may help improve our understanding of the relationships between multiple defects. Further work to better understand some of the top defect combinations could reveal new phenotypic subgroups and increase our knowledge of the developmental mechanisms that underlie the respective defects.

scholarly journals Dental anomalies in the deciduous dentition of non-syndromic oral clefts patients

2020 ◽  
Vol 20 (1) ◽  
pp. 257-263
Author(s):  
Adriana Boeri Freire Tamburini ◽  
Ygor Henrique Pereira Rodrigues ◽  
Daniella Reis Barbosa Martelli ◽  
Letízia Monteiro de Barros ◽  
Rodrigo Soares de Andrade ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Clinical Examination ◽  
Cleft Lip ◽  
Control Group ◽  
Case Group ◽  
Dental Anomalies ◽  
Deciduous Dentition ◽  
Oral Clefts ◽  
Healthy Control ◽  
Definition Of

Abstract Objectives: to investigate the prevalence of dental anomalies in complete deciduous dentition of children with NSCL/P. Methods: this study included 75 children with NSCL/P and 286 healthy control. In both groups the children had deciduous dentition with ages varying from 4 to 6 years. Clinical examination, panoramic and periapical radiographies were performed and dental anomalies of number and shape were considered. Results: there was a higher prevalence of dental anomalies in the case group, compared to the control group. In all, 42 dental anomalies were identified, 25.33% in the case group and 8.04% in control group (p<0.001). Therewas a higher frequency of dental anomalies in NSCL/P (47.36%), followed by non-syndromic cleft lip (31.57%) and non-syndromic cleft palate (21.05%). The occurrence of agenesis (p= 0.005) and twinning (p = 0.029) were higher in the case group. Conclusions: the occurrence of agenesis and dental twinning was more frequent in the case group and may contribute to the definition of oral cleft subphenotype.

Preferential Associations between Oral Clefts and Other Major Congenital Anomalies

2008 ◽  
Vol 45 (5) ◽  
pp. 525-532 ◽  
Author(s):  
Monica Rittler ◽  
Jorge S. López-Camelo ◽  
Eduardo E. Castilla ◽  
Eva Bermejo ◽  
Guido Cocchi ◽  
...  
Keyword(s):  
Spina Bifida ◽  
Cleft Palate ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Heart Defects ◽  
Strong Association ◽  
Renal Dysplasia ◽  
Oral Clefts ◽  
Underlying Mechanisms ◽  
Vertebral Defects

Objectives: To identify preferential associations between oral clefts (CL  =  cleft lip only, CLP  =  cleft lip with cleft palate, CP  =  cleft palate) and nonoral cleft anomalies, to interpret them on clinical grounds, and, based on the patterns of associated defects, to establish whether CL and CLP are different conditions. Design And Settings: Included were 1416 cleft cases (CL  =  131, CLP  =  565, CP  =  720), among 8304 live- and stillborn infants with multiple congenital anomalies, from 6,559,028 births reported to the International Clearinghouse for Birth Defects Surveillance and Research by 15 registries between 1994 and 2004. Rates of associated anomalies were established, and multinomial logistic regressions applied to identify significant associations. Results: Positive associations with clefts were observed for only a few defects, among which anencephaly, encephaloceles, club feet, and ear anomalies were the most outstanding. Anomalies negatively associated with clefts included congenital heart defects, VATER complex (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia), and spina bifida. Conclusion: The strong association between all types of clefts and anencephaly seems to be attributable to cases with disruptions; the association between CP and club feet seems to be attributable to conditions with fetal akinesia. Some negative associations may depend on methodologic factors, while others, such as clefts with VATER components or clefts with spina bifida, may depend on biological factors. The different patterns of defects associated with CL and CLP, indicating different underlying mechanisms, suggest that CL and CLP reflect more than just variable degrees of severity, and that distinct pathways might be involved.

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