Wilson's Disease is caused by a mutation in an enzyme involved in copper transport. Accumulation of copper results in its pathologic features.
Chromosome location: 13q14.3
Gene: ATP7B
Product: P-type ATPase which is involved in copper transport
Inheritance: autosomal recessive, with rare pseudo-dominant inheritance
More than 600 mutations identified, most belonging to single families. Sequence analysis is often necessary to identify the specific mutation. Gene-targeted deletion/duplication analysis may be required in patients not detected by sequence analysis.
Some mutations are seen more often in certain ethnic groups:
(1) European (H1069Q, 3400delC, 2299insC)
(2) Sardinian
(3) Japanese (R778L)
(4) Asian (Arg778Leu)
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