Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase
Saskia A. J. Lesnik Oberstein et al.
American Journal of Human Genetics (Vol. 79, pp.562-566).
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.
Raoul C. M. Hennekam, Department of Pediatrics, Academic Medical Center, Amsterdam.
Table of Contents of Volume 79 (No. 3) with links to Abstracts: TOC.
(C) American Journal of Human Genetics.
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