Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel <scp> <i>MFF</i> </scp> gene mutation in a young child
Isha Panda, Istaq Ahmad, Shakti Sagar, Sana Zahra, Uzma Shamim, Suvasini Sharma, Mohammed Faruq
Abstract
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.