Article
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.
Journal of medical genetics - 1 Nov 2013
Nota Benjamin, Hamilton Eline M, Sie Daoud, Ozturk Senay, van Dooren Silvy J M, Ojeda Matilde R Fernandez, Jakobs Cornelis, Christensen Ernst, Kirk Edwin P, Sykut-Cegielska Jolanta, Lund Allan M, van der Knaap Marjo S, Salomons Gajja S
Abstract excerpt
BACKGROUND: Mosaic IDH1 mutations are described as the cause of metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate (MC-HGA), and mutations in IDH2 as the cause of D-2-hydroxyglutaric aciduria (D-2HGA) type II. Mosaicism for IDH2 mutations has not previously been reported as a cause of D-2HGA. Here we describe three cases: one MC-HGA case with IDH1 mosaic mutations, and two D-2HGA...
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