title: Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations.
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.
authors.affiliation: INSERM U 289, Hôpital de la Salpêtrière, Paris, France.
authors.forename: C B
authors.initials: CB
authors.lastname: Lücking
authors.forename: V
authors.initials: V
authors.lastname: Bonifati
authors.forename: M
authors.initials: M
authors.lastname: Periquet
authors.forename: N
authors.initials: N
authors.lastname: Vanacore
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: G
authors.initials: G
authors.lastname: Meco
mesh_terms: D000328:Adult; D005091:Exons / Q000235:genetics*; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D044767:Ubiquitin-Protein Ligases
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases