title: Novel insertion mutation in the PVRL1 gene in Turkish patients with non-syndromic cleft lip with/without cleft palate.
abstract: OBJECTIVE
  Non-syndromic cleft lip with/without cleft palate (nsCL/P) has a complex aetiology involving both genetic and environmental factors. The aim of this study was to investigate the association between PVRL1 gene mutations and Turkish patients with nsCL/P.
  
  
  METHODS
  In this study, 80 Turkish patients with nsCL/P and 125 unrealeted individuals were analyzed. Mutations were detected using polymerase chain reactions and DNA sequencing.
  
  
  RESULTS
  We found a novel GGA insertion between nucleotide positions c.1311_1313delGGA in exon 6 of the PVRL1 gene. Fifteen of the 80 patients with nsCL/P had the GGA insertion, although no mutation was found in the 125 unrelated individuals.
  
  
  CONCLUSIONS
  We identified new supportive evidence that the association between PVRL1 gene and nsCL/P.
authors.affiliation: Department of Biology, Faculty of Science, Gazi University, Ankara, Turkey. Electronic address: denizaslar@gmail.com.
authors.forename: Deniz
authors.initials: D
authors.lastname: Aşlar
authors.affiliation: Department of Biology, Faculty of Science, Gazi University, Ankara, Turkey. Electronic address: hakkitastan@gazi.edu.tr.
authors.forename: Hakkı
authors.initials: H
authors.lastname: Taştan
mesh_terms: D015815:Cell Adhesion Molecules / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D000075983:Nectins; D016133:Polymerase Chain Reaction; D014421:Turkey
chemical_list: D015815:Cell Adhesion Molecules; C000619010:NECTIN1 protein, human; D000075983:Nectins
keywords: Insertion; Mutation; Nonsyndromic cleft; PVRL1