TY - JOUR
T1 - Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing
AU - Nota, Benjamin
AU - Hamilton, Eline M
AU - Sie, Daoud
AU - Ozturk, Senay
AU - van Dooren, Silvy J M
AU - Ojeda, Matilde R Fernandez
AU - Jakobs, Cornelis
AU - Christensen, Ernst
AU - Kirk, Edwin P
AU - Sykut-Cegielska, Jolanta
AU - Lund, Allan M
AU - van der Knaap, Marjo S
AU - Salomons, Gajja S
PY - 2013/11
Y1 - 2013/11
N2 - 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.
AB - 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.
U2 - 10.1136/jmedgenet-2013-101961
DO - 10.1136/jmedgenet-2013-101961
M3 - Journal article
C2 - 24049096
SN - 0022-2593
VL - 50
SP - 754
EP - 759
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
IS - 11
ER -