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...
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| Published in | Clinical genetics Vol. 101; no. 2; pp. 233 - 241 |
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| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Oxford, UK
Blackwell Publishing Ltd
01.02.2022
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-9163 1399-0004 1399-0004 |
| DOI | 10.1111/cge.14093 |
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| 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. |
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| AbstractList | 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. 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. 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.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. |
| Author | Tomás‐Vila, Miguel Monfort‐Membrado, Sandra Montoya‐Filardi, Alejandro Azorín, Inmaculada Smeyers Dura, Patricia Marco‐Hernández, Ana Victoria Barranco‐González, Honorio Vilchez Padilla, Juan Jesus Pitarch‐Castellano, Inmaculada Martínez‐Castellano, Francisco |
| Author_xml | – sequence: 1 givenname: Ana Victoria orcidid: 0000-0002-6027-376X surname: Marco‐Hernández fullname: Marco‐Hernández, Ana Victoria email: marco_anaher@gva.es organization: Genetics Unit, Hospital Universitari i Politècnic La Fe – sequence: 2 givenname: Miguel surname: Tomás‐Vila fullname: Tomás‐Vila, Miguel organization: Neuropediatrics Section, Hospital Universitari i Politècnic La Fe – sequence: 3 givenname: Alejandro surname: Montoya‐Filardi fullname: Montoya‐Filardi, Alejandro organization: Radiology Service, Hospital Universitari i Politècnic La Fe – sequence: 4 givenname: Honorio surname: Barranco‐González fullname: Barranco‐González, Honorio organization: Oftalmology Service, Hospital Universitari i Politècnic La Fe – sequence: 5 givenname: Juan Jesus surname: Vilchez Padilla fullname: Vilchez Padilla, Juan Jesus organization: Neuromuscular Pathology Laboratory, Health Research Institute La Fe; CIBERER. European Reference for rare Neuromuscular Diseases – sequence: 6 givenname: Inmaculada surname: Azorín fullname: Azorín, Inmaculada organization: Neuromuscular Pathology Laboratory, Health Research Institute La Fe; CIBERER. European Reference for rare Neuromuscular Diseases – sequence: 7 givenname: Patricia surname: Smeyers Dura fullname: Smeyers Dura, Patricia organization: Neuropediatrics Section, Hospital Universitari i Politècnic La Fe – sequence: 8 givenname: Sandra surname: Monfort‐Membrado fullname: Monfort‐Membrado, Sandra organization: Genetics Unit, Hospital Universitari i Politècnic La Fe – sequence: 9 givenname: Inmaculada orcidid: 0000-0002-3864-7374 surname: Pitarch‐Castellano fullname: Pitarch‐Castellano, Inmaculada organization: Neuropediatrics Section, Hospital Universitari i Politècnic La Fe – sequence: 10 givenname: Francisco surname: Martínez‐Castellano fullname: Martínez‐Castellano, Francisco organization: Genetics Unit, Hospital Universitari i Politècnic La Fe |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/34842280$$D View this record in MEDLINE/PubMed |
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| Keywords | developmental encephalopathy optic neuropathy mitofilin complexes IMMT gene nystagmus mitochondrial disorder |
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| Snippet | IMMT gene codes for mitofilin, a mitochondrial inner membrane protein that regulates the morphology of mitochondrial cristae. The phenotype associated with... IMMT gene codes for mitofilin, a mitochondrial inner membrane protein that regulates the morphology of mitochondrial cristae. The phenotype associated with... |
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| SubjectTerms | 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 |
| Title | Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene |
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