Genetics of cleft lip and cleft palate

Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):246-58. doi: 10.1002/ajmg.c.31381. Epub 2013 Oct 4.

Abstract

Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to the etiology of these disorders. Identification of these genes and loci has been the result of decades of research using multiple genetic approaches. Significant progress has been made recently due to advances in sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome-wide association studies. Future progress will hinge on identifying functional variants, investigation of pathway and other interactions, and inclusion of phenotypic and ethnic diversity in studies.

Keywords: cleft lip; cleft palate; genetics; nonsyndromic; syndromes.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Brain / abnormalities*
  • Brain / pathology
  • Cleft Lip / genetics*
  • Cleft Lip / pathology
  • Cleft Palate / genetics*
  • Cleft Palate / pathology
  • Exome
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Phenotype
  • Sequence Analysis, DNA

Supplementary concepts

  • Orofacial Cleft 1