title: SATB2 gene variants in non-syndromic cleft lip with or without cleft palate in Indian population.
abstract: OBJECTIVE
  Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial birth defects and little is known about its aetiology. Initial studies of cytogenetic analysis provided the clues for possible genes involved in the pathogenesis of NSCL/P. This approach led to the identification of SATB2 gene on 2q32-q33. The aim of this study was to determine the association between SATB2 mutations and NSCL/P.
  
  
  METHODS
  The rs137853127, rs200074373 and rs1992950 mutations of the SATB2 gene were investigated in 173 patients with NSCL/P and 176 normal controls using Kbioscience KASPar chemistry, which is a competitive allele-specific PCR SNP genotyping system.
  
  
  RESULTS
  The mutations in exon 6 (rs137853127 and rs200074373) were monomorphic, the intronic variant (rs1992950) was polymorphic and genotype distribution was in agreement with Hardy-Weinberg equilibrium. The rs1992950 genotype distribution is not statistically significant between NSCL/P and controls.
  
  
  CONCLUSIONS
  Our findings suggest that the SATB2 gene variations do not contribute to the development of NSCL/P in the south Indian population.
authors.affiliation: Department of Biomedical Sciences, Sri Ramachandra University, Chennai, India.
authors.forename: Venkatesh Babu
authors.initials: VB
authors.lastname: Gurramkonda
authors.affiliation: Department of Plastic Surgery, Sri Ramachandra University, Chennai, India.
authors.forename: Altaf Hussain
authors.initials: AH
authors.lastname: Syed
authors.affiliation: Department of Plastic Surgery, Sri Ramachandra University, Chennai, India.
authors.forename: Jyotsna
authors.initials: J
authors.lastname: Murthy
authors.affiliation: Department of Biomedical Sciences, Sri Ramachandra University, Chennai, India ; Senior Scientist, Sickle Cell Institute Chhattisgarh, Raipur, India.
authors.forename: Bhaskar V K S
authors.initials: BV
authors.lastname: Lakkakula
keywords: Orofacial clefts; SATB2; SNP