A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review

go back to reference Kranendijk M, Struys EA, Salomons GS, van der Knaap MS, Jakobs C (2012) Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis 35:571–587CrossRefPubMedPubMedCentral Kranendijk M, Struys EA, Salomons GS, van der Knaap MS, Jakobs C (2012) Progress in understanding 2-hydroxyglutaric acidurias. J Inherit Metab Dis 35:571–587CrossRefPubMedPubMedCentral

go back to reference Steenweg ME, Jakobs C, Errami A (2010) An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat 31:380–390CrossRefPubMed Steenweg ME, Jakobs C, Errami A (2010) An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat 31:380–390CrossRefPubMed

go back to reference Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L (2010) Identification of novel L2HGDH gene mutations and update of the pathological spectrum. J Hum Genet 55:55–58CrossRefPubMed Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L (2010) Identification of novel L2HGDH gene mutations and update of the pathological spectrum. J Hum Genet 55:55–58CrossRefPubMed

go back to reference Sue R, Nazneen A, Sherri B et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology. Genet in Med 17(5):405–424CrossRef Sue R, Nazneen A, Sherri B et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology. Genet in Med 17(5):405–424CrossRef

go back to reference Topçu M, Jobard F, Halliez S, Coskun T, Yalçinkayal C, Gerceker FO, Wanders RJA, Prud'homme JF, Lathrop M, Özguc M, Fischer J (2004) L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet 13(22):2803–2811CrossRefPubMed Topçu M, Jobard F, Halliez S, Coskun T, Yalçinkayal C, Gerceker FO, Wanders RJA, Prud'homme JF, Lathrop M, Özguc M, Fischer J (2004) L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet 13(22):2803–2811CrossRefPubMed

go back to reference Van Schaftingen E, Rzem R, Veiga-da-Cunha M (2009) L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair. J Inherit Metab Dis 32:135–142CrossRefPubMed Van Schaftingen E, Rzem R, Veiga-da-Cunha M (2009) L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair. J Inherit Metab Dis 32:135–142CrossRefPubMed

go back to reference Rzem R, Veiga-da-Cunha M, Noël G et al (2004) A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A 101:16849–16854CrossRefPubMedPubMedCentral Rzem R, Veiga-da-Cunha M, Noël G et al (2004) A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A 101:16849–16854CrossRefPubMedPubMedCentral

go back to reference Steenweg ME, Jakobs C, Errami A, van Dooren SJM, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JTR, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HBC, Korman SH, Lee C, Meldgaard Lund A, Mejaški-Bošnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS (2010) An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat 31:380–390CrossRefPubMed Steenweg ME, Jakobs C, Errami A, van Dooren SJM, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JTR, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HBC, Korman SH, Lee C, Meldgaard Lund A, Mejaški-Bošnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS (2010) An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat 31:380–390CrossRefPubMed

go back to reference Aghili M, Zahedi F, Rafiee E (2009) Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neuro-Oncol 91:233–236CrossRef Aghili M, Zahedi F, Rafiee E (2009) Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. J Neuro-Oncol 91:233–236CrossRef

go back to reference Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C (2005) Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mutat 26(4):395–396CrossRefPubMed Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C (2005) Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. Hum Mutat 26(4):395–396CrossRefPubMed

go back to reference Goffette SM, Duprez TP, Nassogne MC et al (2006) L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters. Eur J Neurol 13:499–504CrossRefPubMed Goffette SM, Duprez TP, Nassogne MC et al (2006) L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters. Eur J Neurol 13:499–504CrossRefPubMed

go back to reference Jellouli NK, Hadj Salem I, Ellouz E et al (2014) Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria. J Hum Genet 59:216–222CrossRefPubMed Jellouli NK, Hadj Salem I, Ellouz E et al (2014) Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria. J Hum Genet 59:216–222CrossRefPubMed

go back to reference Larnaout A, Amouri R, Kefi M et al (2008) L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability. J Inherit Metab Dis 31(Suppl 2):S375–S379CrossRefPubMed Larnaout A, Amouri R, Kefi M et al (2008) L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability. J Inherit Metab Dis 31(Suppl 2):S375–S379CrossRefPubMed

go back to reference O'Connor G, King M, Salomons G et al (2009) A novel mutation as a cause of L-2-hydroxyglutaric aciduria. J Neurol 256:672–673CrossRefPubMed O'Connor G, King M, Salomons G et al (2009) A novel mutation as a cause of L-2-hydroxyglutaric aciduria. J Neurol 256:672–673CrossRefPubMed

go back to reference Saifullina EV, Zakharova EY, Kurkina MV et al (2017) L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene. Zh Nevrol Psikhiatr Im S S Korsakova 117(4):81–85CrossRefPubMed Saifullina EV, Zakharova EY, Kurkina MV et al (2017) L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene. Zh Nevrol Psikhiatr Im S S Korsakova 117(4):81–85CrossRefPubMed

go back to reference Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad,et al (2018) Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. BMC Med Genet 19:25 Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad,et al (2018) Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. BMC Med Genet 19:25

go back to reference Jović NJ, Kosać A, Koprivšek K (2014) L-2-Hydroxyglutaric Aciduria: A Case Report. Srp Arh Celok Lek 142(5–6):337–341CrossRefPubMed Jović NJ, Kosać A, Koprivšek K (2014) L-2-Hydroxyglutaric Aciduria: A Case Report. Srp Arh Celok Lek 142(5–6):337–341CrossRefPubMed

go back to reference Işıkay S, Ceylaner S, Karacan M (2014) A child with L-2 hydroxyglutaric aciduria presenting with dilated cardiomyopathy: coincidence or a new syndrome? Anadolu Kardiyol Derg 14:87–93 Işıkay S, Ceylaner S, Karacan M (2014) A child with L-2 hydroxyglutaric aciduria presenting with dilated cardiomyopathy: coincidence or a new syndrome? Anadolu Kardiyol Derg 14:87–93

go back to reference Faiyaz-Ul-Haque M, Al-Sayed MD, Faqeih E et al (2014) Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. Ann Saudi Med 34(2):107–114CrossRefPubMedPubMedCentral Faiyaz-Ul-Haque M, Al-Sayed MD, Faqeih E et al (2014) Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds. Ann Saudi Med 34(2):107–114CrossRefPubMedPubMedCentral

go back to reference Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJS, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478(7367):57–63CrossRefPubMed Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJS, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478(7367):57–63CrossRefPubMed

go back to reference Tai H (2015) Zhang Z. A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study. BMC Neurol 15(1):1–4CrossRef Tai H (2015) Zhang Z. A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study. BMC Neurol 15(1):1–4CrossRef

go back to reference Mazzei R, Ungaro C, Garreffa G, Conforti FL, Mollo A, Sprovieri T, Servillo P, Blasi V, Gallo O, Cerasa A, Lanza PL, Quattrone A (2011) Genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria. Neurol Sci 32:95–99CrossRefPubMed Mazzei R, Ungaro C, Garreffa G, Conforti FL, Mollo A, Sprovieri T, Servillo P, Blasi V, Gallo O, Cerasa A, Lanza PL, Quattrone A (2011) Genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria. Neurol Sci 32:95–99CrossRefPubMed

go back to reference Moroni I, D'Incerti L, Farina L, Rimoldi M, Uziel G (2000) Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci 21:103–108CrossRefPubMed Moroni I, D'Incerti L, Farina L, Rimoldi M, Uziel G (2000) Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci 21:103–108CrossRefPubMed