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Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

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  • Benjamin Nota
  • Eline M Hamilton
  • Daoud Sie
  • Senay Ozturk
  • Silvy J M van Dooren
  • Matilde R Fernandez Ojeda
  • Cornelis Jakobs
  • Ernst Christensen
  • Edwin P Kirk
  • Jolanta Sykut-Cegielska
  • Allan M Lund
  • Marjo S van der Knaap
  • Gajja S Salomons
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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 type II cases. In one D-2HGA case we identified mosaicism for an IDH2 mutation as the genetic cause of this disorder; the other D-2HGA case was caused by a heterozygous IDH2 mutation, while the unaffected mother was a mosaic carrier.
Original languageEnglish
JournalJournal of Medical Genetics
Volume50
Issue number11
Pages (from-to)754-9
Number of pages6
ISSN0022-2593
DOIs
Publication statusPublished - Nov 2013

ID: 42964043