TY - JOUR
T1 - Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
AU - Lesnik Oberstein, Saskia
AU - Kriek, Marjolein
AU - White, Stefan John
AU - Kalf, Margot
AU - Szuhai, Karoly
AU - den Dunnen, Johan
AU - Breuning, Martijn
AU - Hennekam, Raoul
PY - 2006
Y1 - 2006
N2 - 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.
AB - 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.
UR - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559553/pdf/AJHGv79p562.pdf
U2 - 10.1086/507567
DO - 10.1086/507567
M3 - Article
SN - 0002-9297
VL - 79
SP - 562
EP - 566
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 3
ER -