Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

Saskia Lesnik Oberstein, Marjolein Kriek, Stefan John White, Margot Kalf, Karoly Szuhai, Johan den Dunnen, Martijn Breuning, Raoul Hennekam

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    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.
    Original languageEnglish
    Pages (from-to)562 - 566
    Number of pages5
    JournalAmerican Journal of Human Genetics
    Issue number3
    Publication statusPublished - 2006

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