How to cite this article: Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EV. 2008. Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet Part A 146A:2603–2610.
Mutation analysis of B3GALTL in Peters Plus syndrome†
Article first published online: 16 SEP 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 20, pages 2603–2610, 15 October 2008
How to Cite
Reis, L. M., Tyler, R. C., Abdul-Rahman, O., Trapane, P., Wallerstein, R., Broome, D., Hoffman, J., Khan, A., Paradiso, C., Ron, N., Bergner, A. and Semina, E. V. (2008), Mutation analysis of B3GALTL in Peters Plus syndrome. Am. J. Med. Genet., 146A: 2603–2610. doi: 10.1002/ajmg.a.32498
- Issue published online: 24 SEP 2008
- Article first published online: 16 SEP 2008
- Manuscript Accepted: 27 JUN 2008
- Manuscript Received: 3 AUG 2007
- National Eye Institute at the National Institutes of Health (NIH). Grant Numbers: EY013606, EY015518
- Children's Research Institute Foundation at Children's Hospital of Wisconsin
- National Center for Research Resources at NIH. Grant Number: M01 RR00058
- Peters Plus syndrome;
- Peters anomaly;
- congenital disorders of glycosylation
Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern. Mutations in the β1,3-glucosyltransferase gene (B3GALTL) were recently reported in 20 out of 20 patients with Peters Plus syndrome. In our study, B3GALTL was examined in four patients with typical Peters Plus syndrome and four patients that demonstrated a phenotypic overlap with this condition. Mutations in B3GALTL were identified in all four patients with typical Peters Plus syndrome, while no mutations were found in the remaining four patients that demonstrated some but not all characteristic features of the syndrome. The previously reported common mutation, c.660 + 1G > A, accounted for 75% of the mutant alleles in our Peters Plus syndrome population. In addition, two new mutant alleles, c.459 + 1G > A and c.230insT, were identified and predicted to result in truncated protein products. These data confirm an important role for B3GALTL in causing typical Peters Plus syndrome, and suggest that this gene may not be implicated in syndromic cases that involve Peters anomaly but lack other classic features of this complex condition. © 2008 Wiley-Liss, Inc.