SUMO1 haploinsufficiency leads to cleft lip and palate

Fowzan S Alkuraya, Irfan Saadi, Jennifer J Lund, Annick Turbe-Doan, Cynthia C Morton, Richard L Maas

Research output: Contribution to journalArticlepeer-review


The posttranslational modification sumoylation can have multiple effects on its substrate proteins. We studied a patient with isolated cleft lip and palate and a balanced chromosomal translocation that disrupts the SUMO1 (small ubiquitin-related modifier) gene, resulting in haploinsufficiency. In mouse, we found that Sumo1 is expressed in the developing lip and palate and that a Sumo1 hypomorphic allele manifests an incompletely penetrant orofacial clefting phenotype. Products of several genes implicated in clefting are sumoylated, and the Sumo1 hypomorphic allele interacts genetically with a loss-of-function allele for one of these loci. Thus, sumoylation defines a network of genes important for palatogenesis.

Original languageEnglish
Pages (from-to)1751
Issue number5794
Publication statusPublished - 22 Sept 2006


  • Adult
  • Animals
  • Cell Line
  • Child, Preschool
  • Cleft Lip
  • Cleft Palate
  • Embryo, Mammalian
  • Gene Dosage
  • Gene Expression Regulation, Developmental
  • Humans
  • In Situ Hybridization
  • Intracellular Signaling Peptides and Proteins
  • Karyotyping
  • Mice
  • Mice, Inbred C57BL
  • Morphogenesis
  • Nuclear Proteins
  • Palate
  • Protein Tyrosine Phosphatases
  • SUMO-1 Protein
  • Small Ubiquitin-Related Modifier Proteins
  • Stem Cells
  • Translocation, Genetic
  • Journal Article
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't


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