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

Korkut Ulucan, Arzu Akcay, Burak Aksoy, Mehmet Boyraz, Deniz Kirac, Deniz Ergec, Necati Taskin, Ozhan Ozcelebiler, Muhsin Konuk, Teoman Akcay, A. Ilter Guney


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


Cleft lip with/without palate; Congenital; MSX1; Multifactorial; Orofacial clefts

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International Journal of Clinical Pediatrics, quarterly, ISSN 1927-1255 (print), 1927-1263 (online), published by Elmer Press Inc.                     
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