A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia

Anna Bartoletti-Stella, Giacomo Chiaro, Giovanna Calandra-Buonaura, Manuela Contin, Cesa Scaglione, Giorgio Barletta, Annagrazia Cecere, Paolo Garagnani, Paolo Tieri, Alberto Ferrarini, Silvia Piras, Claudio Franceschi, Massimo Delledonne, Pietro Cortelli, Sabina Capellari

Research output: Contribution to journalArticlepeer-review

Abstract

Recurrent focal neuropathy with liability to pressure palsies is a relatively frequent autosomal-dominant demyelinating neuropathy linked to peripheral myelin protein 22 (PMP22) gene deletions. The combination of PMP22 gene mutations with other genetic variants is known to cause a more severe phenotype than expected. We present the case of a patient with severe orthostatic hypotension since 12 years of age, who inherited a PMP22 gene deletion from his father. Genetic double trouble was suspected because of selective sympathetic autonomic disturbances. Through exome-sequencing analysis, we identified two novel mutations in the dopamine beta hydroxylase gene. Moreover, with interactome analysis, we excluded a further influence on the origin of the disease by variants in other genes. This case increases the number of unique patients presenting with dopamine-β-hydroxylase deficiency and of cases with genetically proven double trouble. Finding the right, complete diagnosis is crucial to obtain adequate medical care and appropriate genetic counseling.

Original languageEnglish
Pages (from-to)2373-2381
Number of pages9
JournalJournal of Neurology
Volume262
Issue number10
DOIs
Publication statusPublished - Oct 1 2015

Keywords

  • Dopamine-β-hydroxylase deficiency
  • Exome sequencing, dysautonomia
  • Recurrent focal neuropathy with liability to pressure palsies

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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