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The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype–phenotype correlation

2013; Elsevier BV; Volume: 13; Issue: 6 Linguagem: Inglês

10.1016/j.mito.2013.05.007

1872-8278

Ewa Pronicka, Dorota Piekutowska‐Abramczuk, Tamara Szymańska-Dębińska, Liliana Bielecka, Paweł Kowalski, S. Brandon Luczak, Agnieszka Karkucińska‐Więckowska, Marek Migdał, Jolanta Kubalska, Janusz Zimowski, Ewa Jamroz, Jolanta Wierzba, Jolanta Sykut‐Cegielska, Maciej Pronicki, Jacek Zaremba, Małgorzata Krajewska‐Walasek,

Mitochondrial Function and Pathology

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.