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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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Harvard

Nota, B, Hamilton, EM, Sie, D, Ozturk, S, van Dooren, SJM, Ojeda, MRF, Jakobs, C, Christensen, E, Kirk, EP, Sykut-Cegielska, J, Lund, AM, van der Knaap, MS & Salomons, GS 2013, 'Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing', Journal of Medical Genetics, bind 50, nr. 11, s. 754-9. https://doi.org/10.1136/jmedgenet-2013-101961

APA

Nota, B., Hamilton, E. M., Sie, D., Ozturk, S., van Dooren, S. J. M., Ojeda, M. R. F., Jakobs, C., Christensen, E., Kirk, E. P., Sykut-Cegielska, J., Lund, A. M., van der Knaap, M. S., & Salomons, G. S. (2013). Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing. Journal of Medical Genetics, 50(11), 754-9. https://doi.org/10.1136/jmedgenet-2013-101961

CBE

Nota B, Hamilton EM, Sie D, Ozturk S, van Dooren SJM, Ojeda MRF, Jakobs C, Christensen E, Kirk EP, Sykut-Cegielska J, Lund AM, van der Knaap MS, Salomons GS. 2013. Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing. Journal of Medical Genetics. 50(11):754-9. https://doi.org/10.1136/jmedgenet-2013-101961

MLA

Vancouver

Author

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. / Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing. I: Journal of Medical Genetics. 2013 ; Bind 50, Nr. 11. s. 754-9.

Bibtex

@article{432ec17e8fa048dba97ec4f0e89e75a6,
title = "Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing",
abstract = "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.",
author = "Benjamin Nota and Hamilton, {Eline M} and Daoud Sie and Senay Ozturk and {van Dooren}, {Silvy J M} and Ojeda, {Matilde R Fernandez} and Cornelis Jakobs and Ernst Christensen and Kirk, {Edwin P} and Jolanta Sykut-Cegielska and Lund, {Allan M} and {van der Knaap}, {Marjo S} and Salomons, {Gajja S}",
year = "2013",
month = nov,
doi = "10.1136/jmedgenet-2013-101961",
language = "English",
volume = "50",
pages = "754--9",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "B M J Group",
number = "11",

}

RIS

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

VL - 50

SP - 754

EP - 759

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 11

ER -

ID: 42964043