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Am J Hum Genet. 2006 Sep;79(3):562-6. Epub 2006 Jul 19.

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

Author information

  • 1Center for Human and Clinical Genetics, Department of Clinical Genetics, K5-R, Leiden University Medical Center, 2300 RC Leiden, The Netherlands. Lesnik@LUMC.nl

Erratum in

  • Am J Hum Genet. 2006 Nov;79(5):985.

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.

PMID:
16909395
[PubMed - indexed for MEDLINE]
PMCID:
PMC1559553
Free PMC Article

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