Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child.

Isha Panda, Istaq Ahmad, Shakti Sagar, Sana Zahra, Uzma Shamim, Suvasini Sharma, Mohammed Faruq

Clinical genetics 2020 Jun

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Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by mitochondrial fission factor (MFF) gene mutation is a rare neurogenetic disorder. Pathogenic MFF mutations have been described in three reports in literature so far. We report a young child of Indian descent who presented to us with global developmental followed by regression of acquired milestones, spasticity, visual and auditory impairment, and was found to harbor a novel pathogenic homozygous MFF truncating variant c.433C>T; p.Arg145Ter. Cellular imaging of patient lymphoblastoid cell line had shown abnormal shapes of mitochondria due to fission defects. The patient has been started on mitochondrial cocktail with some improvement. © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Citation

Isha Panda, Istaq Ahmad, Shakti Sagar, Sana Zahra, Uzma Shamim, Suvasini Sharma, Mohammed Faruq. Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child. Clinical genetics. 2020 Jun;97(6):933-937