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PVR/CD155 Ala67Thr Mutation and Cleft Lip/Palate

Alexandre R Vieira1, Ariadne Letra2, Renato M Silva2

  • 1Departments of Oral Biology and Pediatric Dentistry, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA.

The Journal of Craniofacial Surgery
|January 31, 2018
PubMed

Insights

Genetic markers in PVR/CD155 are linked to cleft lip and palate. The specific Ala67Thr mutation has low penetrance, suggesting other factors contribute to this condition.

Area of Science:

  • Genetics
  • Developmental Biology
  • Craniofacial Research

Background:

  • The 19q13 chromosomal locus is implicated in the etiology of cleft lip and palate (CLP). Previous studies, including our own, have identified associations within this region.
  • Identifying specific etiological variants is crucial for understanding CLP pathogenesis and developing targeted interventions.

Purpose of the Study:

  • To fine-map the 19q13 locus and identify genetic variants responsible for cleft lip and palate.
  • To investigate the role of the PVR/CD155 gene and its Ala67Thr mutation in CLP.
  • To assess the expression of PVR/CD155 in human saliva and its potential interaction with environmental factors.

Main Methods:

  • Fine-mapping of the 19q13 interval (between D19S714 and D19S433) using linkage and association analyses in a cohort of 2739 individuals with CLP.
  • Genotyping performed using TaqMan chemistry.
  • Mutation analysis of PVR/CD155 Ala67Thr and assessment of its penetrance.
  • Investigation of PVR/CD155 expression in human whole saliva.

Main Results:

  • Association between markers in the PVR/CD155 gene and cleft lip and palate confirmed.
  • The PVR/CD155 Ala67Thr mutation exhibits very low penetrance, estimated between 1% and 5%.
  • PVR/CD155 expression was not detected in adult human whole saliva.
  • Evidence suggests PVR/CD155 may interact with maternal infection to increase susceptibility to cleft lip.

Conclusions:

  • Markers within the PVR/CD155 gene are significantly associated with cleft lip and palate.
  • The low penetrance of the Ala67Thr mutation indicates it is unlikely to be the sole cause of CLP.
  • PVR/CD155's role in CLP may involve interactions with environmental factors, such as maternal infections, particularly for non-syndromic cleft lip.

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