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 RIS Download
Adult | Craniofacial Abnormalities | Eye Abnormalities | Galactosyltransferases | Glucosyltransferases | Humans | Intellectual Disability | Male | Mouth Abnormalities | Mutation | Sequence Deletion | Syndrome