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Urban, D.L.* ; Scholle, L.M.* ; Wagner, M. ; Ludolph, A.C.* ; Rosenbohm, A.*

The m.9143T>C variant: Recurrent infections and immunodeficiency as an extension of the phenotypic spectrum in MT-ATP6 mutations?

Diseases 8:19 (2020)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Mt-atp6 ; Immune Deficiency ; Mitochondrial Disease ; Phenotypic Spectrum
ISSN (print) / ISBN 2079-9721
e-ISSN 2079-9721
Zeitschrift Diseases
Quellenangaben Band: 8, Heft: 2, Seiten: , Artikelnummer: 19 Supplement: ,
Verlagsort Basel, Switzerland
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)