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

Arch Oral Biol. 2014 Mar;59(3):237-40. doi: 10.1016/j.archoralbio.2013.11.016. Epub 2013 Dec 7.

Abstract

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.

Keywords: Insertion; Mutation; Nonsyndromic cleft; PVRL1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Adhesion Molecules / genetics*
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Mutagenesis, Insertional*
  • Nectins
  • Polymerase Chain Reaction
  • Turkey

Substances

  • Cell Adhesion Molecules
  • NECTIN1 protein, human
  • Nectins