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

Molecular Cell Biology Group , Leiden University, Leyden, South Holland, Netherlands
The American Journal of Human Genetics (Impact Factor: 10.99). 10/2006; 79(3):562-6. DOI: 10.1086/507567
Source: PubMed

ABSTRACT 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.

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May 27, 2014