Alternative name(s) : 3-methylglutaconic aciduria, Type VI\; MGCA6, 3-methylglutaconic aciduria with deafness encephalopathy, and Leigh-like syndrome\; MEGDEL, oligosystemic juvenile-onset complex hereditary spastic paraplegia (cHSP)
Gene_locus : human-SERAC1
Mutation : 27 mutations R148X_human-SERAC1 c.1403+1G-C_human-SERAC1 1167delTCAG_human-SERAC1 L479del_human-SERAC1 R68X_human-SERAC1 T147Rfs_human-SERAC1 Q642X_human-SERAC1 V544fs_human-SERAC1 G536fs_human-SERAC1 S156fs_human-SERAC1 L193Sfs_human-SERAC1 G401D_human-SERAC1 G404E_human-SERAC1 W438X_human-SERAC1 S498T_human-SERAC1 c.128+4A>G_human-SERAC1 D224G_human-SERAC1 R368X_human-SERAC1 c.1822_1828+10delins9_human-SERAC1 c.91+6T>C_human-SERAC1 L550SfsX19_human-SERAC1 G526E_human-SERAC1 P267LfsX10_human-SERAC1 Y548X_human-SERAC1 S450dup_human-SERAC1 K104X_human-SERAC1 c.609+5_609+8del_human-SERAC1
Comment
Recessive disorder of dystonia and deafness with encephalopathy and Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria. Clinical features included psychomotor retardation, recurrent infections in infancy, hypoglycemia, spasticity, dystonia, sensorineural deafness, brain atrophy, and lesions on brain imaging. Laboratory studies showed increased serum lactate and alanine, urinary 3-MGA, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, an abnormal phosphatidylglycerol and cardiolipin spectrum in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells. Mutation of SERAC1 also associated with oligosystemic juvenile-onset complex hereditary spastic paraplegia (cHSP)| Title : A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing - Alagoz_2020_Exp.Ther.Med_19_3505 |
| Author(s) : Alagoz M , Kherad N , Turkmen S , Bulut H , Yuksel A |
| Ref : Exp Ther Med , 19 :3505 , 2020 |
| Abstract : Alagoz_2020_Exp.Ther.Med_19_3505 |
| ESTHER : Alagoz_2020_Exp.Ther.Med_19_3505 |
| PubMedSearch : Alagoz_2020_Exp.Ther.Med_19_3505 |
| PubMedID: 32346411 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family - Roeben_2018_J.Med.Genet_55_39 |
| Author(s) : Roeben B , Schule R , Ruf S , Bender B , Alhaddad B , Benkert T , Meitinger T , Reich S , Bohringer J , Langhans CD , Vaz FM , Wortmann SB , Marquardt T , Haack TB , Krageloh-Mann I , Schols L , Synofzik M |
| Ref : Journal of Medical Genetics , 55 :39 , 2018 |
| Abstract : Roeben_2018_J.Med.Genet_55_39 |
| ESTHER : Roeben_2018_J.Med.Genet_55_39 |
| PubMedSearch : Roeben_2018_J.Med.Genet_55_39 |
| PubMedID: 28916646 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability - Radha Rama Devi_2018_Eur.J.Med.Genet_61_100 |
| Author(s) : Radha Rama Devi A , Lingappa L |
| Ref : Eur Journal of Medical Genetics , 61 :100 , 2018 |
| Abstract : Radha Rama Devi_2018_Eur.J.Med.Genet_61_100 |
| ESTHER : Radha Rama Devi_2018_Eur.J.Med.Genet_61_100 |
| PubMedSearch : Radha Rama Devi_2018_Eur.J.Med.Genet_61_100 |
| PubMedID: 28778788 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing - Theunissen_2017_J.Pediatr_182_371 |
| Author(s) : Theunissen TE , Sallevelt SC , Hellebrekers DM , de Koning B , Hendrickx AT , van den Bosch BJ , Kamps R , Schoonderwoerd K , Szklarczyk R , Mulder-Den Hartog EN , de Coo IF , Smeets HJ |
| Ref : J Pediatr , 182 :371 , 2017 |
| Abstract : Theunissen_2017_J.Pediatr_182_371 |
| ESTHER : Theunissen_2017_J.Pediatr_182_371 |
| PubMedSearch : Theunissen_2017_J.Pediatr_182_371 |
| PubMedID: 28081892 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : MEGDEL Syndrome: Expanding the Phenotype and New Mutations - |
| Author(s) : Sequeira S , Rodrigues M , Jacinto S , Wevers RA , Wortmann SB |
| Ref : Neuropediatrics , 48 :382 , 2017 |
| PubMedID: 28505671 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : [MEGDEL syndrome with an SERAC1 mutation: a case report] - |
| Author(s) : Chen J , Peng J , Yin F |
| Ref : Zhonghua Er Ke Za Zhi , 55 :394 , 2017 |
| PubMedID: 28482397 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome - Blommaert_2016_J.Child.Neurol_31_1220 |
| Author(s) : Blommaert D , van Hulst K , Hoogen FJ , Erasmus CE , Wortmann SB |
| Ref : Journal of Child Neurology , 31 :1220 , 2016 |
| Abstract : Blommaert_2016_J.Child.Neurol_31_1220 |
| ESTHER : Blommaert_2016_J.Child.Neurol_31_1220 |
| PubMedSearch : Blommaert_2016_J.Child.Neurol_31_1220 |
| PubMedID: 27229007 |
| Title : Transient neonatal renal failure and massive polyuria in MEGDEL syndrome - Harbulot_2016_Mol.Genet.Metab.Rep_7_8 |
| Author(s) : Harbulot C , Paquay S , Dorboz I , Pichard S , Bourillon A , Benoist JF , Jardel C , Ogier de Baulny H , Boespflug-Tanguy O , Schiff M |
| Ref : Mol Genet Metab Rep , 7 :8 , 2016 |
| Abstract : Harbulot_2016_Mol.Genet.Metab.Rep_7_8 |
| ESTHER : Harbulot_2016_Mol.Genet.Metab.Rep_7_8 |
| PubMedSearch : Harbulot_2016_Mol.Genet.Metab.Rep_7_8 |
| PubMedID: 27331002 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking - Rodriguez-Garcia_2016_Neurogenetics_17_51 |
| Author(s) : Rodriguez-Garcia ME , Martin-Hernandez E , de Aragon AM , Garcia-Silva MT , Quijada-Fraile P , Arenas J , Martin MA , Martinez-Azorin F |
| Ref : Neurogenetics , 17 :51 , 2016 |
| Abstract : Rodriguez-Garcia_2016_Neurogenetics_17_51 |
| ESTHER : Rodriguez-Garcia_2016_Neurogenetics_17_51 |
| PubMedSearch : Rodriguez-Garcia_2016_Neurogenetics_17_51 |
| PubMedID: 26445863 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre - Pronicka_2016_J.Transl.Med_14_174 |
| Author(s) : Pronicka E , Piekutowska-Abramczuk D , Ciara E , Trubicka J , Rokicki D , Karkucinska-Wieckowska A , Pajdowska M , Jurkiewicz E , Halat P , Kosinska J , Pollak A , Rydzanicz M , Stawinski P , Pronicki M , Krajewska-Walasek M , Ploski R |
| Ref : J Transl Med , 14 :174 , 2016 |
| Abstract : Pronicka_2016_J.Transl.Med_14_174 |
| ESTHER : Pronicka_2016_J.Transl.Med_14_174 |
| PubMedSearch : Pronicka_2016_J.Transl.Med_14_174 |
| PubMedID: 27290639 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : The clinical syndrome of dystonia with anarthria\/aphonia - Ganos_2016_Parkinsonism.Relat.Disord_24_20 |
| Author(s) : Ganos C , Crowe B , Stamelou M , Kresojevic N , Lukic MJ , Bras J , Guerreiro R , Taiwo F , Balint B , Batla A , Schneider SA , Erro R , Svetel M , Kostic V , Kurian MA , Bhatia KP |
| Ref : Parkinsonism Relat Disord , 24 :20 , 2016 |
| Abstract : Ganos_2016_Parkinsonism.Relat.Disord_24_20 |
| ESTHER : Ganos_2016_Parkinsonism.Relat.Disord_24_20 |
| PubMedSearch : Ganos_2016_Parkinsonism.Relat.Disord_24_20 |
| PubMedID: 26924602 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy - |
| Author(s) : Wedatilake Y , Plagnol V , Anderson G , Paine SM , Clayton PT , Jacques TS , Rahman S |
| Ref : Neuropathol Appl Neurobiol , 41 :399 , 2015 |
| PubMedID: 25345337 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation - Unal_2015_Turk.J.Pediatr_57_388 |
| Author(s) : Unal O , Ozgul RK , Yucel D , Yalnizoglu D , Tokatli A , Sivri HS , Hismi B , Coskun T , Dursun A |
| Ref : Turk J Pediatr , 57 :388 , 2015 |
| Abstract : Unal_2015_Turk.J.Pediatr_57_388 |
| ESTHER : Unal_2015_Turk.J.Pediatr_57_388 |
| PubMedSearch : Unal_2015_Turk.J.Pediatr_57_388 |
| PubMedID: 27186703 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome - Wortmann_2015_Neuropediatrics_46_98 |
| Author(s) : Wortmann SB , van Hasselt PM , Baric I , Burlina A , Darin N , Horster F , Coker M , Ucar SK , Krumina Z , Naess K , Ngu LH , Pronicka E , Riordan G , Santer R , Wassmer E , Zschocke J , Schiff M , de Meirleir L , Alowain MA , Smeitink JA , Morava E , Kozicz T , Wevers RA , Wolf NI , Willemsen MA |
| Ref : Neuropediatrics , 46 :98 , 2015 |
| Abstract : Wortmann_2015_Neuropediatrics_46_98 |
| ESTHER : Wortmann_2015_Neuropediatrics_46_98 |
| PubMedSearch : Wortmann_2015_Neuropediatrics_46_98 |
| PubMedID: 25642805 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene - Dweikat_2015_J.Child.Neurol_30_1053 |
| Author(s) : Dweikat IM , Abdelrazeq S , Ayesh S , Jundi T |
| Ref : Journal of Child Neurology , 30 :1053 , 2015 |
| Abstract : Dweikat_2015_J.Child.Neurol_30_1053 |
| ESTHER : Dweikat_2015_J.Child.Neurol_30_1053 |
| PubMedSearch : Dweikat_2015_J.Child.Neurol_30_1053 |
| PubMedID: 25051967 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations - Lumish_2014_JIMD.Rep_16_75 |
| Author(s) : Lumish HS , Yang Y , Xia F , Wilson A , Chung WK |
| Ref : JIMD Rep , 16 :75 , 2014 |
| Abstract : Lumish_2014_JIMD.Rep_16_75 |
| ESTHER : Lumish_2014_JIMD.Rep_16_75 |
| PubMedSearch : Lumish_2014_JIMD.Rep_16_75 |
| PubMedID: 24997715 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria - Tort_2013_Mol.Genet.Metab_110_73 |
| Author(s) : Tort F , Garcia-Silva MT , Ferrer-Cortes X , Navarro-Sastre A , Garcia-Villoria J , Coll MJ , Vidal E , Jimenez-Almazan J , Dopazo J , Briones P , Elpeleg O , Ribes A |
| Ref : Mol Genet Metab , 110 :73 , 2013 |
| Abstract : Tort_2013_Mol.Genet.Metab_110_73 |
| ESTHER : Tort_2013_Mol.Genet.Metab_110_73 |
| PubMedSearch : Tort_2013_Mol.Genet.Metab_110_73 |
| PubMedID: 23707711 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature - Wortmann_2013_J.Inherit.Metab.Dis_36_923 |
| Author(s) : Wortmann SB , Duran M , Anikster Y , Barth PG , Sperl W , Zschocke J , Morava E , Wevers RA |
| Ref : J Inherit Metab Dis , 36 :923 , 2013 |
| Abstract : Wortmann_2013_J.Inherit.Metab.Dis_36_923 |
| ESTHER : Wortmann_2013_J.Inherit.Metab.Dis_36_923 |
| PubMedSearch : Wortmann_2013_J.Inherit.Metab.Dis_36_923 |
| PubMedID: 23296368 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1 - Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| Author(s) : Sarig O , Goldsher D , Nousbeck J , Fuchs-Telem D , Cohen-Katsenelson K , Iancu TC , Manov I , Saada A , Sprecher E , Mandel H |
| Ref : American Journal of Medicine Genet A , 161A :2204 , 2013 |
| Abstract : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| ESTHER : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| PubMedSearch : Sarig_2013_Am.J.Med.Genet.A_161A_2204 |
| PubMedID: 23918762 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797 |
| Author(s) : Wortmann SB , Vaz FM , Gardeitchik T , Vissers LE , Renkema GH , Schuurs-Hoeijmakers JH , Kulik W , Lammens M , Christin C , Kluijtmans LA , Rodenburg RJ , Nijtmans LG , Grunewald A , Klein C , Gerhold JM , Kozicz T , van Hasselt PM , Harakalova M , Kloosterman W , Baric I , Pronicka E , Ucar SK , Naess K , Singhal KK , Krumina Z , Gilissen C , van Bokhoven H , Veltman JA , Smeitink JA , Lefeber DJ , Spelbrink JN , Wevers RA , Morava E , de Brouwer AP |
| Ref : Nat Genet , 44 :797 , 2012 |
| Abstract : Wortmann_2012_Nat.Genet_44_797 |
| ESTHER : Wortmann_2012_Nat.Genet_44_797 |
| PubMedSearch : Wortmann_2012_Nat.Genet_44_797 |
| PubMedID: 22683713 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria) - Karkucinska-Wieckowska_2011_Folia.Neuropathol_49_56 |
| Author(s) : Karkucinska-Wieckowska A , Lebiedzinska M , Jurkiewicz E , Pajdowska M , Trubicka J , Szymanska-Debinska T , Suski J , Pinton P , Duszynski J , Pronicki M , Wieckowski MR , Pronicka E |
| Ref : Folia Neuropathol , 49 :56 , 2011 |
| Abstract : Karkucinska-Wieckowska_2011_Folia.Neuropathol_49_56 |
| ESTHER : Karkucinska-Wieckowska_2011_Folia.Neuropathol_49_56 |
| PubMedSearch : Karkucinska-Wieckowska_2011_Folia.Neuropathol_49_56 |
| PubMedID: 21455844 |
| Title : Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation - Wortmann_2006_Mol.Genet.Metab_88_47 |
| Author(s) : Wortmann S , Rodenburg RJ , Huizing M , Loupatty FJ , de Koning T , Kluijtmans LA , Engelke U , Wevers R , Smeitink JA , Morava E |
| Ref : Mol Genet Metab , 88 :47 , 2006 |
| Abstract : Wortmann_2006_Mol.Genet.Metab_88_47 |
| ESTHER : Wortmann_2006_Mol.Genet.Metab_88_47 |
| PubMedSearch : Wortmann_2006_Mol.Genet.Metab_88_47 |
| PubMedID: 16527507 |
| Gene_locus related to this paper: human-SERAC1 |