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Mitochondrial Myopathy, Sideroblastic Anemia, and Lactic Acidosis: An Autosomal Recessive Syndrome in Persian Jews Caused by a Mutation in the PUS1 Gene

Department of Pediatrics Schneider, Children's Medical of Israel Petah-Tiqva, Israel

Nathan Fischel-Ghodsian, MD

Medical Genetics Institute Ahmanson, Department of Pediatrics, Steven Spielberg Pediatric Research Center Cedars-Sinai Medical Center and David Geffen School of Medicine at UCLA Los Angeles, California

Kari Casas, MD

Medical Genetics Institute Ahmanson Department of Pediatrics Steven Spielberg Pediatric Research Center Cedars-Sinai Medical Center and David Geffen School of Medicine at UCLA Los Angeles, California

Yelena Bykhovskaya, MD

Medical Genetics Institute Ahmanson Department of Pediatrics Steven Spielberg Pediatric Research Center Cedars-Sinai Medical Center and David Geffen School of Medicine at UCLA Los Angeles, California

Hana Tamari, MD

Department of Hematology and Oncology Schneider Children's Medical of Israel Petah-Tiqva, Israel

Dorit Lev, MD

Pediatric Neurology Unit and Metabolic-Neurogenetic Clinic Wolfson Medical Center, Holon Sackler Faculty of Medicine Tel Aviv University Tel Aviv, Israel

Marc Mimouni, MD

Department of Pediatrics Schneider Children's Medical of Israel Petah-Tiqva, Israel

Tally Lerman-Sagie, MD

Pediatric Neurology Unit and Metabolic-Neurogenetic Clinic Wolfson Medical Center, Holon Sackler Faculty of Medicine Tel Aviv University Tel Aviv, Israel, asagie{at}post.tau.ac.il

We report the seventh case of autosomal recessive inherited mitochondrial myopathy, lactic acidosis, and sideroblastic anemia. The patient, a product of consanguineous Persian Jews, had the association of mental retardation, dysmorphic features, lactic acidosis, myopathy, and sideroblastic anemia. Muscle biopsy demonstrated low activity of complexes 1 and 4 of the respiratory chain. Electron microscopy revealed paracrystalline inclusions in most mitochondria. Southern blot of the mitochondrial DNA did not show any large-scale rearrangements. The patient was found to be homozygous for the 656CT mutation in the pseudouridine synthase 1 gene (PUS1). Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia is an oxidative phosphorylation disorder causing sideroblastic anemia, myopathy, and, in some cases, mental retardation that is due to mutations in the nuclear-encoded PUS1 gene. This finding provides additional evidence that mitochondrial ribonucleic acid modification impacts the phenotypic expression of oxidative phosphorylation disorders. (J Child Neurol 2005;20:449—452).

Journal of Child Neurology, Vol. 20, No. 5, 449-452 (2005)
DOI: 10.1177/08830738050200051301


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