title: A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease.
abstract: 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.
authors.affiliation: Faculty of Medicine of Sfax, Human Molecular Genetic Laboratory, University of Sfax, Tunisia. imen.chamkha@gmail.com
authors.forename: Imen
authors.initials: I
authors.lastname: Chamkha
authors.forename: Olfa
authors.initials: O
authors.lastname: Alila-Fersi
authors.forename: Emna
authors.initials: E
authors.lastname: Mkaouar-Rebai
authors.forename: Hajer
authors.initials: H
authors.lastname: Aloulou
authors.forename: Chamseddine
authors.initials: C
authors.lastname: Kifagi
authors.forename: Mongia
authors.initials: M
authors.lastname: Hachicha
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
mesh_terms: D017668:Age of Onset; D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D042967:Electron Transport Complex I / Q000737:chemistry / Q000235:genetics*; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D017433:Protein Structure, Secondary
chemical_list: D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I