Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

Am J Hum Genet. 2006 Sep;79(3):562-6. doi: 10.1086/507567. Epub 2006 Jul 19.


Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, and developmental delay. After detection of a microdeletion by array-based comparative genomic hybridization, we identified biallelic truncating mutations in the beta 1,3-galactosyltransferase-like gene (B3GALTL) in all 20 tested patients, showing that Peters Plus is a monogenic, primarily single-mutation syndrome. This finding is expected to put Peters Plus syndrome on the growing list of congenital malformation syndromes caused by glycosylation defects.

MeSH terms

  • Adult
  • Craniofacial Abnormalities / enzymology
  • Craniofacial Abnormalities / genetics*
  • Eye Abnormalities / enzymology
  • Eye Abnormalities / genetics*
  • Galactosyltransferases / genetics*
  • Glucosyltransferases
  • Humans
  • Intellectual Disability / enzymology
  • Intellectual Disability / genetics*
  • Male
  • Mouth Abnormalities / enzymology
  • Mouth Abnormalities / genetics*
  • Mutation
  • Sequence Deletion
  • Syndrome


  • B3GLCT protein, human
  • Galactosyltransferases
  • Glucosyltransferases