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

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, bo...

Full description

Saved in:

Bibliographic Details
Published in	Clinical genetics Vol. 101; no. 2; pp. 233 - 241
Main Authors	Marco‐Hernández, Ana Victoria, Tomás‐Vila, Miguel, Montoya‐Filardi, Alejandro, Barranco‐González, Honorio, Vilchez Padilla, Juan Jesus, Azorín, Inmaculada, Smeyers Dura, Patricia, Monfort‐Membrado, Sandra, Pitarch‐Castellano, Inmaculada, Martínez‐Castellano, Francisco
Format	Journal Article
Language	English
Published	Oxford, UK Blackwell Publishing Ltd 01.02.2022
Subjects	Alleles Amino Acid Substitution Biopsy Consanguinity Cristae developmental encephalopathy Diagnostic Imaging Electron microscopy Encephalopathy Genetic Predisposition to Disease Homozygote Humans IMMT gene Infant Membrane proteins Mitochondria mitochondrial disorder Mitochondrial Encephalomyopathies - diagnosis Mitochondrial Encephalomyopathies - genetics Mitochondrial Proteins mitofilin complexes Morphology Muscle Proteins Mutation Nystagmus Optic Nerve Diseases - diagnosis Optic Nerve Diseases - genetics Optic neuropathy Phenotype Phenotypes Symptom Assessment developmental encephalopathy optic neuropathy mitofilin complexes IMMT gene nystagmus mitochondrial disorder
Online Access	Get full text
ISSN	0009-9163 1399-0004 1399-0004
DOI	10.1111/cge.14093

Cover

More Information
Summary:	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.
Bibliography:	Funding information Instituto de Salud Carlos III, Grant/Award Number: CM19/00181 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Case Study-2 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0009-9163 1399-0004 1399-0004
DOI:	10.1111/cge.14093