NDUFS6 related Leigh syndrome: a case report and review of the literature
2019
The genetic causes of Leigh syndrome are heterogeneous, with a poor genotype–phenotype correlation. To date, more than 50
nuclear genescause
nuclear gene-encoded Leigh syndrome.
NDUFS6encodes a 13
kiloDaltonssubunit, which is part of the peripheral arm of complex I and is localized in the iron-sulfur fraction. Only a few patients were reported with proven
NDUFS6pathogenic variants and all presented with severe neonatal lactic acidemia and complex I deficiency, leading to death in the first days of life. Here, we present a patient harboring two
NDUFS6variants with a phenotype compatible with Leigh syndrome. Although most of previous reports suggested that
NDUFS6pathogenic variants invariably lead to early neonatal death, this report shows that the clinical spectrum could be larger. We found a severe decrease of
NDUFS6protein level in patient’s fibroblasts associated with a complex I assembly defect in patient’s muscle and fibroblasts. These data confirm the importance of
NDUFS6and the Zn-finger domain for a correct assembly of complex I.
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