Objective: Nonsyndromic cleft lip with/without cleft palate (nsCL/P, OMIM 119530) is one of the most common birth defects with a prevalence of ∼1/1000 in Caucasians. Studies have demonstrated an association between nsCL/P and the variants of the poliovirus receptor like-1 gene (PVRL1). The aim of this study was to describe novel variants in exon 3 of the PVRL1 gene and to investigate the association between exon 3 of the PVRL1 gene and Turkish patients with nsCL/P.
Methods: 205 Turkish subjects were enrolled: 80 nsCL/P patients and 125 unrelated control individuals. Genomic DNA was isolated from peripheral blood leukocytes, and exon 3 of the PVRL1 gene was amplified using polymerase chain reaction (PCR). After PCR, the amplied DNA was sequenced using an automated sequencer.
Results: We identified two new variants of the PVRL1 gene at codons 174 and 187 in exon 3. These variants had nucleotide substitutions 520T>A and 560C>A, resulting in S174T and T187N amino acid changes, respectively.
Conclusion: Two novel variants of the PVRL 1 gene were identified in nsCL/P patients. These findings suggest that PVRL1 variants make a contribution to nsCL/P in Turkish patients.