• Register
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.


Leaving Community

Are you sure you want to leave this community? Leaving the community will revoke any permissions you have been granted in this community.


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

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.

Pubmed ID: 16909395


  • Lesnik Oberstein SA
  • Kriek M
  • White SJ
  • Kalf ME
  • Szuhai K
  • den Dunnen JT
  • Breuning MH
  • Hennekam RC


American journal of human genetics

Publication Data

September 15, 2006

Associated Grants


Mesh Terms

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