Mutation analysis of B3GALTL in Peters Plus syndrome

Linda M. Reis, Rebecca C. Tyler, Omar Abdul-Rahman, Pamela Trapane, Robert Wallerstein, Diane Broome, Jodi Hoffman, Aneal Khan, Christina Paradiso, Nitin Ron, Amanda Bergner, Elena V. Semina

Research output: Contribution to journalArticlepeer-review

39 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2603-2610
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number20
DOIs
StatePublished - Oct 15 2008

Keywords

  • B3GALTL
  • B3GTL
  • Congenital disorders of glycosylation
  • Glycosylation
  • Peters Plus syndrome
  • Peters anomaly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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