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

http://www.ncbi.nlm.nih.gov/pubmed/16909395

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

Mesh terms: Adult | Craniofacial Abnormalities | Eye Abnormalities | Galactosyltransferases | Glucosyltransferases | Humans | Intellectual Disability | Male | Mouth Abnormalities | Mutation | Sequence Deletion | Syndrome

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