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Genetic screening for pheochromocytoma: should SDHC gene analysis be included?
  1. Massimo Mannelli (m.mannelli{at}dfc.unifi.it)
  1. University of Florence, Italy
    1. Tonino Ercolino (tonino.ercolino{at}dfc.unifi.it)
    1. University of Florence, Italy
      1. Valentino Giachè (v.giache{at}dfc.unifi.it)
      1. University of Florence, Italy
        1. Lisa Simi (lisa.simi{at}dfc.unifi.it)
        1. University of Florence, Italy
          1. Calogero Cirami
          1. Careggi Hospital, Italy
            1. Gabriele Parenti
            1. University of Florence, Italy

              Abstract

              PGL3 syndrome is caused by mutations in SDHC gene. At present only few families affected by SDHC mutations have been reported in the literature and in each of them the clinical presentation was characterized by paragangliomas located only in the head and neck region.No evidence of thoracic or abdominal catecholamine secreting chromaffin tumours has been reported so far. Here we report the case of a 15 yr old hypertensive female affected by a norepinephrine-secreting abdominal paragangliomas who was found to harbour a novel nonsense SDHC mutation, demonstrating that the clinical presentation of PGL3 syndrome can be wider than expected.

              • PGL3
              • W42X
              • genetic testing
              • neural crest derived tumors
              • paraganglioma

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