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Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child
Author(s) -
Panda Isha,
Ahmad Istaq,
Sagar Shakti,
Zahra Sana,
Shamim Uzma,
Sharma Suvasini,
Faruq Mohammed
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13740
Subject(s) - mutation , peroxisome , mitochondrion , fission , encephalopathy , gene , genetics , biology , mitochondrial fission , medicine , physics , quantum mechanics , neutron
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.