Nota, Benjamin2; Hamilton, Eline M3; Sie, Daoud3; Ozturk, Senay3; van Dooren, Silvy J M3; Ojeda, Matilde R Fernandez3; Jakobs, Cornelis3; Christensen, Ernst1; Kirk, Edwin P3; Sykut-Cegielska, Jolanta3; Lund, Allan M1; van der Knaap, Marjo S3; Salomons, Gajja S3
1 Klinisk Genetisk Klinik, Juliane Marie Centre, Rigshospitalet, The Capital Region of Denmark2 Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.3 unknown
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.
Journal of Medical Genetics, 2013, Vol 50, Issue 11, p. 754-9