title: The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.
abstract: The aim of this study was to assess the natural history of the SCO2 deficiency in relation to the genotype in a cohort of 62 patients with SCO2 mutations (36 this study, 26 previous reports). A novel, milder phenotype (disease onset delayed until one year after birth, nonspecific encephalomyopathy, and 2-4 year survival period) associated with compound heterozygosity of the common p.E140K and a novel p.M177T mutations extends the range of symptoms of the SCO2 deficiency. The prevalence of SCO2 deficiency in Poland is relatively high. A search for SCO2 mutations in patients with histology resembling SMA appears to efficiently improve the detection rate.
authors.affiliation: Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address: e.pronicka@czd.pl.
authors.forename: Ewa
authors.initials: E
authors.lastname: Pronicka
authors.forename: Dorota
authors.initials: D
authors.lastname: Piekutowska-Abramczuk
authors.forename: Tamara
authors.initials: T
authors.lastname: Szymańska-Dębińska
authors.forename: Liliana
authors.initials: L
authors.lastname: Bielecka
authors.forename: Paweł
authors.initials: P
authors.lastname: Kowalski
authors.forename: Sylwia
authors.initials: S
authors.lastname: Luczak
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Karkucińska-Więckowska
authors.forename: Marek
authors.initials: M
authors.lastname: Migdał
authors.forename: Jolanta
authors.initials: J
authors.lastname: Kubalska
authors.forename: Janusz
authors.initials: J
authors.lastname: Zimowski
authors.forename: Ewa
authors.initials: E
authors.lastname: Jamroz
authors.forename: Jolanta
authors.initials: J
authors.lastname: Wierzba
authors.forename: Jolanta
authors.initials: J
authors.lastname: Sykut-Cegielska
authors.forename: Maciej
authors.initials: M
authors.lastname: Pronicki
authors.forename: Jacek
authors.initials: J
authors.lastname: Zaremba
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Krajewska-Walasek
mesh_terms: D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D004247:DNA / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D018832:Molecular Chaperones; D009154:Mutation; D010641:Phenotype; D011044:Poland
chemical_list: D002352:Carrier Proteins; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; C400285:SCO2 protein, human; D004247:DNA
keywords: Genotype–phenotype correlation; Natural history; Novel mutation; OXPHOS; SCO2; SCO2 gene mutations; SMA; oxidative phosphorylation; spinal muscular atrophy; synthesis of COX, cytochrome c oxidase