Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet A 2008 Oct 15;146A(20):2603-10
Date
09/18/2008Pubmed ID
18798333Pubmed Central ID
PMC2755183DOI
10.1002/ajmg.a.32498Scopus ID
2-s2.0-55549109436 (requires institutional sign-in at Scopus site) 47 CitationsAbstract
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 beta1,3-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.
Author List
Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EVAuthor
Elena V. Semina PhD Chief, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleBase Sequence
Child
Child, Preschool
Eye Abnormalities
Female
Galactosyltransferases
Glucosyltransferases
Glycosylation
Humans
Infant
Infant, Newborn
Male
Molecular Sequence Data
Mutation
Syndrome
