title: A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions.
abstract: Pearson syndrome (PS) is a multisystem disease including refractory anemia, vacuolization of marrow precursors and pancreatic fibrosis. The disease starts during infancy and affects various tissues and organs, and most affected children die before the age of 3years. Pearson syndrome is caused by de novo large-scale deletions or, more rarely, duplications in the mitochondrial genome. In the present report, we described a Pearson syndrome patient harboring multiple mitochondrial deletions which is, in our knowledge, the first case described and studied in Tunisia. In fact, we reported the common 4.977kb deletion and two novel heteroplasmic deletions (5.030 and 5.234kb) of the mtDNA. These deletions affect several protein-coding and tRNAs genes and could strongly lead to defects in mitochondrial polypeptides synthesis, and impair oxidative phosphorylation and energy metabolism in the respiratory chain in the studied patient.
authors: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia. imenbenayed60@yahoo.fr
authors: Imen Ben
authors: IB
authors: Ayed
authors: Imen
authors: I
authors: Chamkha
authors: Emna
authors: E
authors: Mkaouar-Rebai
authors: Thouraya
authors: T
authors: Kammoun
authors: Najla
authors: N
authors: Mezghani
authors: Imen
authors: I
authors: Chabchoub
authors: Hajer
authors: H
authors: Aloulou
authors: Mongia
authors: M
authors: Hachicha
authors: Faiza
authors: F
authors: Fakhfakh
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency; D000756:Anemia, Sideroblastic / Q000235:genetics*; D001483:Base Sequence; D000080984:Congenital Bone Marrow Failure Syndromes; D004272:DNA, Mitochondrial / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D050259:Genes, Mitochondrial; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors; D028361:Mitochondrial Diseases / Q000235:genetics*; D009135:Muscular Diseases; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial; D044942:Acyl-CoA Dehydrogenase, Long-Chain