Coding Regions of MSX1 do not Contribute to Non-Syndromic Cleft Lip With/Without Palate in Turkish Patients

Abstract

Background: One of the candidate genes for non-syndromic cleft lip with/without palate (NS-CL/P) is muscle segment homeobox 1 ( MSX1 ) gene. MSX1 codes for a homeodomain protein that function as a transcriptional repressor during craniofacial development. In this study, we investigated the contribution of coding regions and exonic-intronic boundaries of MSX1 in Turkish NS-CL/P patients and the gender distribution of NS-CL/P in examined cohort. Methods: We analyzed a total of 100 NS-CL/P Turkish patients, of whom 61 were boy and, 100 non-affected children of whom 44 were boys. Genotyping procedure was assessed by polymerase chain reaction-sequencing protocol. Fisher Exact Analysis was performed to compare the gender difference. Results: We detected no variations in coding regions and intronic-exonic boundaries of MSX1 in both groups. Boys to girls ’ ratio were 1.6 in our patient group. There was a statistically significant gender difference between groups, boys were more effected than girls (P = 0.023). Conclusions: This was the first report including MSX1 in Turkish patients with NS-CL/P. We detected no sequence variations in the coding regions, including the exonic-intronic boundaries of MSX1 in our study population. More comprehensive analysis of MSX1 in Turkish population is required to fulfill MSX1 role for the onset of the anomaly. Int J Clin Pediatr. 2014;3(1):12-15 doi: http://dx.doi.org/10.14740/ijcp136e