TITLE

Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations

AUTHOR(S)
Angius, A.; Dessi, V.; Lovicu, M.; De Virgiliis, S.; Pirastu, M.; Cao, A.; Antonio, C.
PUB. DATE
February 1998
SOURCE
European Journal of Pediatrics;1998, Vol. 157 Issue 2, p128
SOURCE TYPE
Academic Journal
DOC. TYPE
journal article
ABSTRACT
Unlabelled: We describe a patient with Wilson disease who presented at 11 years of age with neurological symptoms and subsequent rapid progression of neurological impairment but absent hepatic manifestations. Molecular analysis showed compound heterozygosity for two frameshift mutations, 2299insC and 214delAT, which most likely result in an absent or inactive protein product. Mutation-phenotypic analysis indicates that this genotype does not explain the severe phenotype, suggesting the presence of modifying factors.Conclusion: Wilson disease may present even in childhood or adolescence with neurological abnormalities in the absence of hepatic manifestations.
ACCESSION #
4677653

 

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