doi: 10.1212/wnl.57.5.924.
Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations
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- PMID: 11552035
- DOI: 10.1212/wnl.57.5.924
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Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations
Neurology.
.
Abstract
The authors report an Italian family with pseudo-dominant inheritance of parkinsonism attributable to parkin gene mutations. The father (disease onset at age 57 years) was homozygous for a triplication of exon 2 that is so far unique. The unaffected mother was heterozygous for deletions of exons 3 and 4, and the son (onset at age 31 years) was a compound heterozygote carrying both mutations. Thus, pseudo-dominant inheritance of parkin gene mutations has to be considered in early-onset parkinsonism, and sensitive screening techniques, such as semiquantitative multiplex PCR, should be applied.
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