Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.
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.
Lesnik Oberstein
Saskia A J
SA
Center for Human and Clinical Genetics, Department of Clinical Genetics, K5-R, Leiden University Medical Center, 2300 RC Leiden, The Netherlands. Lesnik@LUMC.nl
Kriek
Marjolein
M
White
Stefan J
SJ
Kalf
Margot E
ME
Szuhai
Karoly
K
den Dunnen
Johan T
JT
Breuning
Martijn H
MH
Hennekam
Raoul C M
RC
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
C514116:B3GLCT protein, human; D005700:Galactosyltransferases; D005964:Glucosyltransferases