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

Research output: Contribution to journalArticle


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
External organisations
  • University of Sfax
  • University of Montpellier
Research areas and keywords


  • Age of Onset, Amino Acid Sequence, DNA Mutational Analysis, Electron Transport Complex I, Glycogen Storage Disease Type II, Humans, Infant, Male, Mitochondria, Mitochondrial Proteins, Molecular Sequence Data, Mutation, Protein Structure, Secondary
Original languageEnglish
Pages (from-to)31-8
Number of pages8
JournalBiochemical and Biophysical Research Communications
Issue number1-2
Publication statusPublished - 2012 Dec 7
Publication categoryResearch
Externally publishedYes