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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

Authors

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

Journal

American journal of human genetics

Publication Data

September 15, 2006

Associated Grants

None

Mesh Terms

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