title: Association of MSX1 c.*6C > T Variant with Nonsyndromic Cleft Lip With or Without Cleft Palate in Turkish Patients.
abstract: OBJECTIVE
  Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common birth defects, with a birth prevalence of 1/1000 in Caucasians. MSX1 (muscle segment homeobox gene 1) is a strong candidate gene for nsCL/P. The aim of this study was to investigate the association between MSX1 variants and nsCL/P in Turkish patients.
  
  
  METHODS
  Our study included 80 patients with nsCL/P and 125 age-matched healthy individuals. Genomic DNA was isolated from peripheral blood leukocytes and exon 2 of the MSX1 gene was amplified using polymerase chain reaction (PCR). After PCR, we sequenced the products using an automated sequencer.
  
  
  RESULTS
  We found the c.*6C > T variation in the MSX1 gene. This variant in the 3' untranslated region is located 6 bp downstream of the stop codon (TAG) in exon 2. Forty-eight individuals (60%) of 80 in the case group had the CT genotype. We revealed a statistically significant association between the MSX1 c.*6C > T variant and nsCL/P in Turkey (p = 0.01).
  
  
  CONCLUSIONS
  Our identification of the c.*6C > T variant appears to be the first reported result associating variants of the MSX1 gene with nsCL/P patients.
authors.affiliation: Department of Biology, Faculty of Science, Gazi University , Ankara, Turkey .
authors.forename: Deniz
authors.initials: D
authors.lastname: Aslar Oner
authors.affiliation: Department of Biology, Faculty of Science, Gazi University , Ankara, Turkey .
authors.forename: Hakki
authors.initials: H
authors.lastname: Tastan
mesh_terms: D020413:3' Untranslated Regions; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics* / Q000378:metabolism; D002972:Cleft Palate / Q000235:genetics* / Q000378:metabolism; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051957:MSX1 Transcription Factor / Q000235:genetics* / Q000378:metabolism; D008297:Male; D020641:Polymorphism, Single Nucleotide; D014421:Turkey; D044465:White People / Q000235:genetics
chemical_list: D020413:3' Untranslated Regions; D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human