Novel insertion mutation in the PVRL1 gene in Turkish patients with non-syndromic cleft lip with/without cleft palate.

OBJECTIVES

Non-syndromic cleft lip with/without cleft palate (nsCL/P) has a complex aetiology involving both genetic and environmental factors. The aim of this study was to investigate the association between PVRL1 gene mutations and Turkish patients with nsCL/P.

DESIGN

In this study, 80 Turkish patients with nsCL/P and 125 unrealeted individuals were analyzed. Mutations were detected using polymerase chain reactions and DNA sequencing.

RESULTS

We found a novel GGA insertion between nucleotide positions c.1311_1313delGGA in exon 6 of the PVRL1 gene. Fifteen of the 80 patients with nsCL/P had the GGA insertion, although no mutation was found in the 125 unrelated individuals.

CONCLUSION

We identified new supportive evidence that the association between PVRL1 gene and nsCL/P.