CIPF-IIS La Fe

Results Overall, 172 individuals from 130 unrelated families were studied by CES. Screening of NOP56 expansion was done in all undiagnosed families with a possible dominant disease and sporadic cases with a suggestive phenotype of hereditary CA (Figure 1 and eFigure 1, links.lww.com/NXG/A555). The mean age at onset was 39 years (range 2–83, SD ± 19.5). Ninety-four patients (55%) were male. Ethnicity was predominantly Caucasian (n = 125, 96%). Four families had Romani ancestry and one African.

Abstract The diagnosis of WD is not always easy. For many patients, a combination of tests reflecting disturbed copper metabolism may be needed. Since the availability of testing for ATP7B variants has become part of the routine diagnostic approach. The methods of genetic testing include analysis of the 21 coding exons and intronic flanking sequences, in which exons with recurrent variants would be prioritized depending on the mutation frequency in the local population.