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

Imen Chamkha, Olfa Alila-Fersi, Emna Mkaouar-Rebai, Hajer Aloulou, Chamseddine Kifagi, Mongia Hachicha, Faiza Fakhfakh

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)31-8
Number of pages8
JournalBiochemical and Biophysical Research Communications
Issue number1-2
Publication statusPublished - 2012 Dec 7
Externally publishedYes

Free 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


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