Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

Authors:
Saskia A. J. Lesnik Oberstein et al.

Published in:
American Journal of Human Genetics (Vol. 79, pp.562-566).

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.

Contact:

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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