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A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.
Kekou, Kyriaki; Sofocleous, Christalena; Papadimas, George; Petichakis, Dimitris; Svingou, Maria; Pons, Roser-Maria; Vorgia, Pelagia; Gika, Artemis; Kitsiou-Tzeli, Sophia; Kanavakis, Emmanuel.
Affiliation
  • Kekou K; Department of Medical Genetics, School of Medicine, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece. Electronic address: kkekou@med.uoa.gr.
  • Sofocleous C; Department of Medical Genetics, School of Medicine, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece; Research Institute for the Study of Genetic and Malignant Diseases in Childhood, Aghia Sophia Children's Hospital, Athens, Greece.
  • Papadimas G; First Department of Neurology, School of Medicine, University of Athens, Athens, Greece.
  • Petichakis D; Department of Medical Genetics, School of Medicine, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
  • Svingou M; Department of Medical Genetics, School of Medicine, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
  • Pons RM; First Department of Pediatrics, School of Medicine, University of Athens, Aghia Sophia Childrens' Hospital, Athens, Greece.
  • Vorgia P; Medical School University of Crete, Heraklion Crete, Greece.
  • Gika A; First Department of Pediatrics, School of Medicine, University of Athens, Aghia Sophia Childrens' Hospital, Athens, Greece.
  • Kitsiou-Tzeli S; Department of Medical Genetics, School of Medicine, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece.
  • Kanavakis E; Department of Medical Genetics, School of Medicine, University of Athens, Aghia Sophia Children's Hospital, Athens, Greece; Research Institute for the Study of Genetic and Malignant Diseases in Childhood, Aghia Sophia Children's Hospital, Athens, Greece.
Mol Cell Probes ; 30(4): 254-260, 2016 08.
Article in En | MEDLINE | ID: mdl-27417533
ABSTRACT
Dystrophinopathies are allelic X-linked myopathies caused by large deletions/duplications or small lesions along the DMD gene. An unexpected dynamic trinucleotide (GAA) expansion, ranging from ∼59 to 82 pure GAA repeats, within the DMD intron 62, was revealed to segregate through three family generations. From the pedigree, two female patients were referred for DMD investigation due to chronic myopathy and a muscle biopsy compatible with dystrophinopathy. As the size of the GAA repeat is limited to 11-33 within the general population our findings may provide a novel insight towards a Trinucleotide Repeat Expansion. Whether this TNR has an impact on the reported phenotype remains to be resolved.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dystrophin / Trinucleotide Repeats Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Mol Cell Probes Journal subject: BIOLOGIA MOLECULAR / BIOTECNOLOGIA Year: 2016 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dystrophin / Trinucleotide Repeats Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Mol Cell Probes Journal subject: BIOLOGIA MOLECULAR / BIOTECNOLOGIA Year: 2016 Document type: Article