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Article

Missing heritability of Wilson disease: a search for the uncharacterized mutations.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Mar 2023

Roy Shubhrajit, Ghosh Sampurna, Ray Jharna, Ray Kunal, Sengupta Mainak

Abstract excerpt

Wilson disease (WD), a copper metabolism disorder caused by mutations in ATP7B, manifests heterogeneous clinical features. Interestingly, in a fraction of clinically diagnosed WD patients, mutations in ATP7B appears to be missing. In this review we discuss the plausible explanations of this missing heritability and propose a workflow that can identify the hidden mutations. Mutation analyses of WD generally...

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PMID: 36462057
DOI: 10.1007/s00335-022-09971-y

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