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Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein.

Mitochondrion - 1 May 2020

Lebigot E, Hully M, Amazit L, Gaignard P, Michel T, Rio M, Lombès M, Thérond P, Boutron A, Golinelli-Cohen M P

Abstract excerpt

We report a patient carrying a novel pathogenic variant p.(Tyr101Cys) in ISCA1 leading to MMDS type 5. He initially presented a psychomotor regression with loss of gait and language skills and a tetrapyramidal spastic syndrome. Biochemical analysis of patient fibroblasts revealed impaired lipoic acid synthesis and decreased activities of complex I and II of respiratory chain. While ISCA1 is involved in the...

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PMID: 32092383
DOI: 10.1016/j.mito.2020.02.008

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