TY - JOUR
T1 - A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia
AU - Bartoletti-Stella, Anna
AU - Chiaro, Giacomo
AU - Calandra-Buonaura, Giovanna
AU - Contin, Manuela
AU - Scaglione, Cesa
AU - Barletta, Giorgio
AU - Cecere, Annagrazia
AU - Garagnani, Paolo
AU - Tieri, Paolo
AU - Ferrarini, Alberto
AU - Piras, Silvia
AU - Franceschi, Claudio
AU - Delledonne, Massimo
AU - Cortelli, Pietro
AU - Capellari, Sabina
PY - 2015/10/1
Y1 - 2015/10/1
N2 - 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.
AB - 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.
KW - Dopamine-β-hydroxylase deficiency
KW - Exome sequencing, dysautonomia
KW - Recurrent focal neuropathy with liability to pressure palsies
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U2 - 10.1007/s00415-015-7896-z
DO - 10.1007/s00415-015-7896-z
M3 - Article
C2 - 26410747
AN - SCOPUS:84944463355
VL - 262
SP - 2373
EP - 2381
JO - Journal of Neurology
JF - Journal of Neurology
SN - 0340-5354
IS - 10
ER -