Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.

Clinical genetics 2022 Feb

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IMMT gene codes for mitofilin, a mitochondrial inner membrane protein that regulates the morphology of mitochondrial cristae. The phenotype associated with mutations in this gene has not been yet established, but functional studies carried out show that its loss causes a mitochondrial alteration, both in the morphology of the mitochondrial crests and in their function. We present two cousins from an extended highly consanguineous family with developmental encephalopathy, hypotonia, nystagmus due to optic neuropathy. The likely pathogenic homozygous c.895A>G (p.Lys299Glu) variant in the IMMT gene co-segregates with the disease and associates altered mitochondrial cristae observed by electron microscopy. © 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Citation

Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Alejandro Montoya-Filardi, Honorio Barranco-González, Juan Jesus Vilchez Padilla, Inmaculada Azorín, Patricia Smeyers Dura, Sandra Monfort-Membrado, Inmaculada Pitarch-Castellano, Francisco Martínez-Castellano. Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene. Clinical genetics. 2022 Feb;101(2):233-241