Abstract
Pathogenic variants in the MT-ATP6 are a well-known cause for maternally inherited mitochondrial disorders associated with a wide range of clinical phenotypes. Here, we present a 31- year old female with insulin-dependent diabetes mellitus, recurrent lactic acidosis and ketoacidosis recurrent infections with suspected immunodeficiency with T cell lymphopenia and hypogammaglobulinemia as well as proximal tetraparesis with severe muscle and limb pain and rapid physical exhaustion. Muscle biopsy and respiratory chain activities were normal. Single-exome sequencing revealed a variant in the MT-ATP6 gene: m.9143T>C. Analysis of further specimen of the index and mother (segregation studies) revealed the highest mutation load in muscle (99% level of mtDNA heteroplasmy) of the index patient. Interestingly, acute metabolic and physical decompensation during recurrent illness was documented to be a common clinical feature in patients with MT-ATP6 variants. However, it was not mentioned as a key symptom. Thus, we suggest that the clinical spectrum might be expanded in ATP6-associated diseases.
Highlights
Pathogenic mitochondrial DNA variants are associated with a wide range of clinical phenotypes, often involving multiple organ systems
Variants in MT-ATP6 are a well-known cause for maternally inherited mitochondrial disorders associated with a continuous spectrum of clinical phenotypes [2,3], e.g., clinically grouped into
The present study provided important insights in the phenotypic spectrum of disease-causing
Summary
Pathogenic mitochondrial DNA (mtDNA) variants are associated with a wide range of clinical phenotypes, often involving multiple organ systems. Variants in MT-ATP6 are a well-known cause for maternally inherited mitochondrial disorders associated with a continuous spectrum of clinical phenotypes [2,3], e.g., clinically grouped into. A recent cohort study reported novel findings associated with MT-ATP6 variants, e.g., an overlap in some patients with non-syndromic neurological manifestation and in asymptomatic individuals. We present a novel variant in the MT-ATP6 gene in a 31- year old female with the clinical leading symptoms of proximal tetraparesis, insulin-dependent diabetes mellitus, recurrent lactic acidosis, and ketoacidosis during recurrent infections. The presented case extends the phenotypic spectrum of reported MT-ATP6 mutations by recurrent infections and immunodeficiency as a possible key symptom
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