Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5
| Autor: | V. Kucerova Vidrova, Tomas Honzik, Hana Hansikova, Petra Liskova, M. Forgac, Hana Kolarova, Josef Zamecnik, Marketa Tesarova |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Mitochondrial DNA genetic structures DNA Mutational Analysis Vision Disorders Visual Acuity Optic Atrophy Hereditary Leber Biology MELAS syndrome DNA Mitochondrial Polymorphism Single Nucleotide Thyroiditis Mitochondrial Proteins 03 medical and health sciences symbols.namesake 0302 clinical medicine MELAS Syndrome medicine Humans Child Myopathy Genetics (clinical) Genetics Sanger sequencing Electron Transport Complex I medicine.disease eye diseases Heteroplasmy Ophthalmology Phenotype 030104 developmental biology Lactic acidosis Pediatrics Perinatology and Child Health symbols Visual Field Tests Female Sensorineural hearing loss medicine.symptom 030217 neurology & neurosurgery |
| Zdroj: | Ophthalmic Genetics. 37:419-423 |
| ISSN: | 1744-5094 1381-6810 |
| Popis: | Leber hereditary optic neuropathy (LHON) and mitochondrial encephalopathy, myopathy, lactic acidosis and stroke-like episodes (MELAS) syndromes are mitochondrially inherited disorders characterized by acute visual failure and variable multiorgan system presentation, respectively.A 12-year-old girl with otherwise unremarkable medical history presented with abrupt, painless loss of vision. Over the next few months, she developed moderate sensorineural hearing loss, vertigo, migraines, anhedonia and thyroiditis. Ocular examination confirmed bilateral optic nerve atrophy. Metabolic workup documented elevated cerebrospinal fluid lactate. Initial genetic analyses excluded the three most common LHON mutations. Subsequently, Sanger sequencing of the entire mitochondrial DNA (mtDNA) genome was performed.Whole mtDNA sequencing revealed a pathogenic heteroplasmic mutation m.13046TC in MTND5 encoding the ND5 subunit of complex I. This particular variant has previously been described in a single case report of MELAS/Leigh syndrome (subacute necrotizing encephalopathy). Based on the constellation of clinical symptoms in our patient, we diagnose the condition as LHON/MELAS overlap syndrome.We describe a unique presentation of LHON/MELAS overlap syndrome resulting from a m.13046TC mutation in a 12-year-old girl. In patients with sudden vision loss in which three of the most prevalent LHON mitochondrial mutations have been ruled out, molecular genetic examination should be extended to other mtDNA-encoded subunits of MTND5 complex I. Furthermore, atypical clinical presentations must be considered, even in well-described phenotypes. |
| Databáze: | OpenAIRE |
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