• Genomics & Informatics
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• v.5 no.2
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• pp.56-60
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• 2007

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial birth defect that is the result of a mixture of genetic and environmental factors. While studies have identified a number of different candidate genes and loci for the etiology of CL/P, the results have not been consistent among different ethnic groups. To study the genetic association of the candidate genes in Korean patients affected by CL/P, we genotyped 97 nonsyndromic CL/P patients and 100 control individuals using single nucleotide polymorphic markers at the MTHFR, TGFA, and IRF6 genes. We report that the T3827C marker at TGFA showed significant association with nonsyndromic CL/P, but all the other markers tested were not significantly associated with nonsyndromic CL/P in Korean patients.

• Archives of Craniofacial Surgery
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• v.25 no.2
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• pp.51-61
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• 2024

Background: The influence of smoking on nonsyndromic clefts has been a topic of research for many years. However, few studies have investigated the effect of smoking on causing clefts in different gene pools. Methods: A meta-analysis was conducted of case-control studies related to smoking. Keywords such as "clefts," "cleft lip," "cleft palate," "orofacial cleft," and "smoking" were used to search the MEDLINE, Embase, and Cochrane databases. Results: In total, 51 articles were reviewed. The RevMan software was utilized for the analysis, and the Mantel-Haenszel method was employed to pool the odds ratios (ORs) and 95% confidence intervals. Although the overall OR, a measure of the association between exposure and outcome, was higher for smokers than for non-smokers, this association was significantly stronger in individuals from Asia and South America (1.73), and lowest in Europe (1.31). Among active and passive smokers in Asia, the OR was approximately 0.93, indicating an equivalent impact from both types of smoking. Conclusion: This analysis indirectly suggests that restriction measures targeting both active and passive smoking are crucial in Asia.

• 대한치과교정학회:학술대회논문집
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• 2003.10a
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• pp.26-26
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• 2003

• The korean journal of orthodontics
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• v.43 no.3
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• pp.113-119
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• 2013

Objective: To compare three-dimensionally the midfacial hard- and soft-tissue asymmetries between the affected and the unaffected sides and determine the relationship between the hard tissue and the overlying soft tissue in patients with nonsyndromic complete unilateral cleft lip and palate (UCLP) by cone-beam computed tomography (CBCT) analysis. Methods: The maxillofacial regions of 26 adults (18 men, 8 women) with nonsyndromic UCLP were scanned by CBCT and reconstructed by three-dimensional dental imaging. The frontal-view midfacial analysis was based on a $3{\times}3$ grid of vertical and horizontal lines and their intersecting points. Two additional points were used for assessing the dentoalveolar area. Linear and surface measurements from three reference planes (Basion-perpendicular, midsagittal reference, and Frankfurt horizontal planes) to the intersecting points were used to evaluate the anteroposterior, transverse, and vertical asymmetries as well as convexity or concavity. Results: Anteroposteriorly, the soft tissue in the nasolabial and dentoalveolar regions was significantly thicker and positioned more anteriorly on the affected side than on the unaffected side (p < 0.05). The hard tissue in the dentoalveolar region was significantly retruded on the affected side compared with the unaffected side (p < 0.05). The other midfacial regions showed no significant differences. Conclusions: With the exception of the nasolabial and dentoalveolar regions, no distinctive midfacial hard- and soft-tissue asymmetries exist between the affected and the unaffected sides in patients with nonsyndromic UCLP.

• The korean journal of orthodontics
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• v.38 no.2
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• pp.133-143
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• 2008

Objective: This study was performed to identify the characteristics of the MSX1 gene (locus chromosome 4p16) in Korean nonsyndromic cleft lip and palate (CL/P), which is assumed to be a major candidate gene acting as a causal factor in nonsyndromic CL/P and missing teeth. Methods: The 36 individuals (23 males and 13 females) who had visited the department of orthodontics at from 1998 to 2002 and who had nonsyndromic CL/P were included in the study. Using a PCR-based assay, the MSX1 gene was amplified, sequenced, and searched for inferred protein products (Reference: Homo sapiens MSX1, accession number AF426432 and NP_002439). The common single nucleotide polymorph isms were observed. Results: In exon 1, nucleotide "A" of the 253 basepair (bp) region was substituted for "G", and in the 255 bp region, nucleotide "G" was inserted. In exon 2, nucleotide "C" of the 11 bp region was substituted for "A", and "T" or "G" was inserted into the 351 bp region whereas "T" or "A" was inserted into the 352 bp region. In protein analysis, "Thr85Ala" missense mutation was found. The "Thr85Ala" missense mutation in this study is different from those of studies using subjects of other races. Conclusions: The results suggest that there is specific mutation of MSX1 in Korean and it plays an important role in Korean nonsyndromic CL/P. However, any distinct genetic polymorphisms between CL/P with missing teeth in the cleft region and CL/P without missing teeth could not be found.

• Archives of Plastic Surgery
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• v.44 no.3
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• pp.217-222
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• 2017

Background The prevalence of flap necrosis after palatoplasty in patients with cleft palate. The prevalence of mucoperiosteal flap necrosis after palatoplasty remains unknown, and this complication is rare. This event is highly undesirable for both the patient and the surgeon. We present here a new scale to evaluate the degree of hypoplasia of the palate and identify patients with cleft palate at high risk for the development of this complication. Methods In this case series, a 20-year retrospective analysis (1994-2014) identified patients from our records (medical records and screening day registries) with nonsyndromic cleft palate who underwent operations at 3 centers. All of these patients underwent operations using 2-flap palatoplasty and also underwent a physical examination with photographs and documentation of the presence of palatal flap necrosis after primary palatoplasty. Results Palatal flap necrosis was observed in 4 cases out of 1,174 palatoplasties performed at these centers. The observed prevalence of palatal flap necrosis in these groups was 0.34%. Conclusions The prevalence of flap necrosis can be reduced by careful preoperative planning, and prevention is possible. The scale proposed here may help to prevent this complication; however, further studies are necessary to validate its utility.

• Proceedings of The Korean Cleft Lip And Palate Association
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• 2002.05a
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• pp.28-28
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• 2002

• BMB Reports
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• v.36 no.6
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• pp.533-537
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• 2003

The nonsyndromic cleft lip and palate (NSCL/P) is a congenital deformity of multifactorial origin with a relatively high incidence in the oriental population. Various etiologic candidate genes have been reported with conflicting results, according to race and analysis methods. Recently, the ablation of the TGF-${\beta}3$ gene function induced cleft palates in experimental animals. Also, polymorphisms in the TGF-${\beta}3$ gene have been studied in different races; however, they have not been studied in Koreans. A novel A $\rightarrow$ G single nucleotide polymorphism (defined by the endonuclease SfaN1) was identified in intron 5 of TGF-${\beta}3$ (IVS5+104 A > G). It resulted in different genotypes, AA, AG, and GG. The objective of this study was to investigate the relationship between the SfaN1 polymorphism in TGF-${\beta}3$ and the risk of NSCL/P in the Korean population. The population of this study consisted of 28 NSCL/P patients and 41 healthy controls. The distribution of the SfaN1 genotypes was different between the cases and controls. The frequency of the G allele was significantly associated with the increased risk of NSCL/P [odds ratio (OR) = 15.92, 95% confidence interval (CI) = 6.3-41.0]. The risk for the disease increased as the G allele numbers increased (GA genotype: OR = 2.11, 95% CI = 0.38-11.68; GG genotype: OR = 110.2, 95% CI = 10.67 - 2783.29) in NSCL/P. A stratified study in patients revealed that the SfaN1 site IVS5+104A > G substitution was strongly associated with an increased risk of NSCL/P in males (p < 0.001), but not in females. In conclusion, the polymorphism of the SfaN1 site in TGF-${\beta}3$ was significantly different between the NSCL/P patients and the control. This may be a good screening marker for NSCL/P patients among Koreans.

• The korean journal of orthodontics
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• v.34 no.3 s.104
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• pp.261-267
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• 2004

Nonsyndromic cleft lip and/or palate (NSCLP) is one of the most common congenital deformities and its prevalence in Far East Asia, such as within Korean and Japanese populations, is relatively high. However, in the eastern part of Europe, clefts are relatively rare situations. These ethnic differences infer a genetic background of the disease. The objective of this study was to compare the frequency of single nucleotide polymorphism (SNP) in $TGF-{\beta}3$ between Korean and Romanian cleft families. Korean cleft families samples were collected from twenty-six families (n=78) and Romanian cleft families samples were collected from eighteen families (n=41). For sequencing, the blood or saliva of the subjects was sampled. A single nucleotide polymorphism was observed in the intron 5 of $TGF-{\beta}3$ (Al8141G). The frequency of each allele was significantly different between the Korean and Romanian samples. The Ah allele was present in 18 out of 78 Korean samples (23.1%) and in 27 out of 41 Romanian samples (65.9%). The AG was present in 27 (34.6%) out of 78 Koreans and in 13 (31.7%) out of 41 Romanians. The GG was found in 33 (42.3%) Koreans and in 1 (2.4%) Romanian. The difference between the groups was significant (p<0.001). In conclusion, the frequency of observed SNP was significantly different between the two countries. SNP in $TGF-{\beta}3$ in the Korean population seemed to have a higher possibility of occurrence for nonsyndromic cleft palate than the Romanian population.

• Archives of Craniofacial Surgery
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• v.18 no.3
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• pp.191-196
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• 2017

Basal cell carcinoma (BCC) comprising several lesions is not uncommon, but nonsyndromic multiple BCCs with parotid invasion are rare entities. We present two cases of multiple sporadic, nonsyndromic BCCs, and one of these cases is a unique case of parotid invasion associated purely with actinic keratosis. In Case 1, a 79-year-old female presented with multiple skin lesions on the face and left hand. All lesions were completely removed by surgery. The pathologic results showed lesions consistent with BCC and some lesions consistent with actinic keratosis. After 8 months, the patient presented with skin lesions in bilateral temporal areas and left cheek area. Surgical excision of the lesions was performed, and the biopsy results were squamous cell carcinoma in situ and actinic keratosis. In Case 2, a 43-year-old woman presented with multiple skin lesions on the face, scalp, right chest, abdomen and right leg. All lesions were completely removed by surgery. Pathologic evaluation confirmed the diagnosis of BCC. BCC is rarely metastatic, but it can lead to severe disfiguration or destruction. It is important to diagnose and treat BCC at an early stage.