A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease

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Pompe disease is a progressive metabolic myopathy caused by deficiency in lysosomal acid α-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of clinical phenotypes exists from hypotonia and severe cardiac hypertrophy in the first few months of life to a milder form with the onset of symptoms in adulthood. The disease is typically due to severe mutations in GAA gene. In the present study, we described a newborn boy with clinical features of Pompe disease particularly with hypertrophic cardiomyopathy, hypotonia and hepatomegaly. This case was at first misdiagnosed as mitochondrial disorder. Accordingly, we performed a mitochondrial mutational analysis that revealed a novel mutation m.12908T>A in the ND5 gene. Secondary structure analysis of the ND5 protein further supported the deleterious role of the m.12908T>A mutation, as it was found to involve an extended imbalance in its hydrophobicity and affect its function.


  • Imen Chamkha
  • Olfa Alila-Fersi
  • Emna Mkaouar-Rebai
  • Hajer Aloulou
  • Chamseddine Kifagi
  • Mongia Hachicha
  • Faiza Fakhfakh
Externa organisationer
  • University of Sfax
  • University of Montpellier


Sidor (från-till)31-8
Antal sidor8
TidskriftBiochemical and Biophysical Research Communications
StatusPublished - 2012 dec 7
Peer review utfördJa
Externt publiceradJa