title: Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
abstract: A homozygote missense mutation of the pseudouridylate synthase gene was found in an adult patient with chronic sideroblastic anemia, diarrhea, microcephaly and failure to thrive. Moderate muscle weakness occurred in adulthood (6-min walk distance at 26 years: 240 m, control range 380-782 m) but a profound deficiency of mitochondrial respiratory chain complexes I and IV were found in her skeletal muscle. This, to our knowledge, is the first example of long survival of this usually fatal mitochondrial deficiency into adulthood. We suggest giving consideration to mitochondrial translation deficiency in unexplained syndromic sideroblastic anemia in adulthood.
authors.affiliation: INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France.
authors.forename: Metodi D
authors.initials: MD
authors.lastname: Metodiev
authors.affiliation: Department of Genetics, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Assouline
authors.affiliation: INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Landrieu
authors.affiliation: INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Chretien
authors.affiliation: Department of Pediatric Immunology and Rheumatology, INSERM U768, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.
authors.forename: Brigitte
authors.initials: B
authors.lastname: Bader-Meunier
authors.affiliation: Service de Pédiatrie Générale, Hématologie et Rhumatologie Pédiatrique, GHU Paris-Sud - Hôpital de Bicêtre, 78 Rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Guitton
authors.affiliation: 1] INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France [2] Department of Genetics, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.affiliation: INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France.
authors.forename: Agnès
authors.initials: A
authors.lastname: Rötig
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D005260:Female; D006720:Homozygote; D006801:Humans; D006836:Hydro-Lyases / Q000235:genetics*; D017241:MELAS Syndrome / Q000175:diagnosis / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense
chemical_list: D006836:Hydro-Lyases; C022479:pseudouridylate synthetase