title: Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.
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.
authors.affiliation: Center for Human and Clinical Genetics, Department of Clinical Genetics, K5-R, Leiden University Medical Center, 2300 RC Leiden, The Netherlands. Lesnik@LUMC.nl
authors.forename: Saskia A J
authors.initials: SA
authors.lastname: Lesnik Oberstein
authors.forename: Marjolein
authors.initials: M
authors.lastname: Kriek
authors.forename: Stefan J
authors.initials: SJ
authors.lastname: White
authors.forename: Margot E
authors.initials: ME
authors.lastname: Kalf
authors.forename: Karoly
authors.initials: K
authors.lastname: Szuhai
authors.forename: Johan T
authors.initials: JT
authors.lastname: den Dunnen
authors.forename: Martijn H
authors.initials: MH
authors.lastname: Breuning
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D000328:Adult; D019465:Craniofacial Abnormalities / Q000201:enzymology / Q000235:genetics*; D005124:Eye Abnormalities / Q000201:enzymology / Q000235:genetics*; D005700:Galactosyltransferases / Q000235:genetics*; D005964:Glucosyltransferases; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009056:Mouth Abnormalities / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D017384:Sequence Deletion; D013577:Syndrome
chemical_list: C514116:B3GLCT protein, human; D005700:Galactosyltransferases; D005964:Glucosyltransferases