Timely diagnosis of Wilson's disease using whole exome sequencing.

RODRIGUEZ S; ROSALES J; KAUFFMAN MARCELO

PARKINSONISM & RELATED DISORDERS

ELSEVIER SCI LTD

Lugar: Amsterdam; Año: 2015 vol. 21 p. 1375 - 1377

1353-8020

Wilson´s disease (WD) is a rare inborn error of copper meta- bolism caused by mutations in ATP7B gene. Although there is no ge- netic heterogeneity in WD etiology, the widespread clinical presentation of WD makes its diagnosis not always straightforward, particularly when atypical symptoms are present and a number of differential diagnoses must be considered [1]. Since it is a poten- tially treatable disorder, the prognosis of WD rests in a confirma- tory and timely diagnosis leading to prompt therapy [1,2]. Exome sequencing has proved to be useful for the diagnosis of several neu- rogenetic disorders, enhancing the ability to identify the causative genetic defect in patients with complex phenotypes. Moreover, the cost and time needed to reach a proper diagnosis is reduced [3]. We report the phenotype and genotype of a patient with WD who, by means of exome sequencing, was diagnosed with the disease, with two novel ATP7B mutations being identified.