New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease
Keywords
Wilson disease, ATP7B gene, older ageAbstract
We report the case of a 70-year-old man diagnosed with late-onset Wilson disease (WD) with mild neurological symptoms only and a new mutation in the ATP7B gene. A compound mutation of the ATP7B gene was found with the variant c.98T>C p(Met33Thr) in exon 2, in heterozygosis, and variant c.2224G>A (Val742Ile) in exon 8, in heterozygosis. Patient age should not be a determinant for excluding WD. Genetic sequencing is an important tool for the discovery of new genetic mutations.
References

Published: 2022-12-01
Issue: 2022: Vol 9 No 12 (view)
Section: Articles