Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.

ABSTRACT: Wilson disease is a medically actionable rare autosomal recessive disorder of defective copper excretion caused by mutations in ATP7B, one of two highly evolutionarily conserved copper-transporting ATPases. Hundreds of disease-causing variants in ATP7B have been reported to public databases; more than half of these are missense changes, and a significant proportion are presumed unequivocal loss-of-function variants (nonsense, frameshift, and canonical splice site). Current molecular genetic testing includes sequencing all coding exons (±10 bp) as well as deletion/duplication testing, with reported sensitivity of >98%. We report a proband from a consanguineous family with a biochemical phenotype consistent with early-onset Wilson disease who tested negative on conventional mol

SUBMITTER: Koboldt DC 

PROVIDER: S-EPMC7304350 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature