Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
Clin Genet
; 101(2): 233-241, 2022 02.
Article
em En
| MEDLINE
| ID: mdl-34842280
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças do Nervo Óptico
/
Encefalomiopatias Mitocondriais
/
Proteínas Mitocondriais
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Homozigoto
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Proteínas Musculares
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Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Infant
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Espanha