TY - JOUR
T1 - Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
AU - Lesnik Oberstein, Saskia A. J.
AU - Kriek, Marjolein
AU - White, Stefan J.
AU - Kalf, Margot E.
AU - Szuhai, Karoly
AU - den Dunnen, Johan T.
AU - Breuning, Martijn H.
AU - Hennekam, Raoul C. M.
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
U2 - https://doi.org/10.1086/507567
DO - https://doi.org/10.1086/507567
M3 - Article
C2 - 16909395
SN - 0002-9297
VL - 79
SP - 562
EP - 566
JO - American journal of human genetics
JF - American journal of human genetics
IS - 3
ER -