title: Variants of the CDH1 (E-Cadherin) Gene Associated with Oral Clefts in the Thai Population.
abstract: OBJECTIVE
  The etiology of oral clefts in humans is genetically complex and mutations in multiple genes have been linked with clefting. CDH1 (E-cadherin) has been found to be involved in lip and palate development, and CDH1 mutations are associated with oral clefts in some populations.
  
  
  METHODS
  To determine if there is an association between CDH1 and oral clefting in a Thai population, we sequenced the entire 6.5-kb coding region of the CDH1 gene in 80 oral cleft patients and compared the identified variants with those found in 138 unrelated Thai individuals who did not have oral clefts, as genotyped by exome sequencing.
  
  
  RESULTS
  Among the oral cleft patients, four nonsynonymous single nucleotide variants (SNVs), c.1235T>C (p.V412A), c.1273G>A (p.V425I), c.1565C>T (p.T522I), and c.1888C>G (p.L630V), were identified. Only one nonsynonymous variant (c.1409C>T; p.T470I) was found among the 138 noncleft exomes. The frequency of nonsynonymous SNVs on the CDH1 gene in oral cleft patients (4/80) was significantly higher than that in the control group (1/138) (p = 0.042).
  
  
  CONCLUSIONS
  We found that nonsynonymous variants of CDH1 were associated with oral clefts in the Thai population.
authors.affiliation: 1 Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University , Bangkok, Thailand .|2 Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital , the Thai Red Cross Society, Bangkok, Thailand .
authors.forename: Rungnapa
authors.initials: R
authors.lastname: Ittiwut
authors.affiliation: 3 Central Laboratory, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University , Bangkok, Thailand .
authors.forename: Chupong
authors.initials: C
authors.lastname: Ittiwut
authors.affiliation: 4 Deputy Director of Relief and Community Health Bureau , the Thai Red Cross Society, Bangkok, Thailand .
authors.forename: Pichit
authors.initials: P
authors.lastname: Siriwan
authors.affiliation: 5 Department of Surgery, Faculty of Medicine, Prince of Songhla University , HaadYai, Songkla, Thailand .
authors.forename: Vichai
authors.initials: V
authors.lastname: Chichareon
authors.affiliation: 1 Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University , Bangkok, Thailand .|2 Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital , the Thai Red Cross Society, Bangkok, Thailand .
authors.forename: Kanya
authors.initials: K
authors.lastname: Suphapeetiporn
authors.affiliation: 1 Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University , Bangkok, Thailand .|2 Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital , the Thai Red Cross Society, Bangkok, Thailand .
authors.forename: Vorasuk
authors.initials: V
authors.lastname: Shotelersuk
mesh_terms: D015703:Antigens, CD; D001483:Base Sequence; D015820:Cadherins / Q000235:genetics* / Q000378:metabolism; D016022:Case-Control Studies; D002971:Cleft Lip / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D002972:Cleft Palate / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D059472:Exome; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D017421:Sequence Analysis; D013785:Thailand / Q000453:epidemiology
chemical_list: D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins