No abstract

No abstract

No abstract

Orofacial cleft, lip, alveolar bone and/or palate (CLP) is one of the most common congenital birth defects worldwide affecting up to 1 in 700 children. 1 Patients with CLP suffer from negative self-confidence due to functional and aesthetic impairments, therefore, surgical techniques have been introduced to improve both types of impairments such as alveolar bone grafting. 2,3 Secondary alveolar bone grafting (SABG) is usually performed on children at the age of 8-12 years when the canine roots are one-half to two-thirds

Non-syndromic cleft lip with or without cleft palate (nsCL/P) ranks among the most common human congenital malformations, and has a multifactorial background in which both exogenous and genetic risk factors act in concert. The present report describes a genome-wide association study (GWAS) involving a total of 285 nsCL/P patients and 1212 controls from the Netherlands and Belgium. Twenty of the 40 previously reported nsC/LP susceptibility loci were replicated, which underlined the validity of this sample. SNV-based analysis of the data identified an as yet unreported suggestive locus at chromosome 16p12.1 (p-value of the lead SNV: 4.17 × 10−7). This association was replicated in two of three patient/control replication series (Central European and Yemeni). Gene analysis of the GWAS data prioritized SH3PXD2A at chromosome 10q24.33 as a candidate gene for nsCL/P. To date, support for this gene as a cleft gene has been restricted to data from zebrafish and a knockout mouse model. The present GWAS was the first to implicate SH3PXD2A in non-syndromic cleft formation in humans. In summary, although performed in a relatively small sample, the present GWAS generated novel insights into nsCL/P etiology.