Pseudo-heterozygous rearrangement mutation of parkin.
Mov Disord
; 27(4): 552-5, 2012 Apr.
Article
em En
| MEDLINE
| ID: mdl-22308057
ABSTRACT
BACKGROUND:
Mutations in parkin are the most frequent cause of autosomal recessive parkinsonism. Quantitative PCR is used to detect parkin rearrangements. However, the method has an inherent problem-deletion and duplication in the same allelic exon could be determined as normal. To present this misidentification, we report a family with compound heterozygous rearrangements in parkin.METHODS:
A patient with early-onset parkinsonism and the parents were investigated by quantitative PCR, haplotype analysis, reverse-transcription PCR, and direct sequencing.RESULTS:
A single heterozygous duplication (duplication of exons 6-7) was identified in the patient by quantitative PCR. Detailed analysis of the family revealed the patient carried compound heterozygous of combined deletion (deletion of exons 3-5) and duplication (duplication of exons 3-7).CONCLUSIONS:
For correct determination of rearrangement mutation, mutation analysis of the patient as well as other family members and/or break-point analysis of genomic DNA and at the transcript level should be conducted.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Transtornos Parkinsonianos
/
Ubiquitina-Proteína Ligases
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Mov Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Japão