Identification of Novel Variants in the PVRL1 Gene in Patients With Nonsyndromic Cleft Lip With or Without Cleft...

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.

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.

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.

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.