Chromosome 22q11.2 deletion may contain a locus for recessive early-onset Parkinson's disease
Recently, it has been reported that carriers of a hemizygous chromosome 22q11.2 deletion may be at increased risk of early-onset Parkinson's disease. Herein, we propose a hypothesis that it is not the microdeletion per se that is responsible for the phenotype but rather a complete loss of funct...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Ogaki, Kotaro [verfasserIn] |
|---|
| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2014 |
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| Schlagwörter: |
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| Umfang: |
2 |
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| Übergeordnetes Werk: |
Enthalten in: Parkinsonism & related disorders - Aral, Efecan ELSEVIER, 2022, official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:20 ; year:2014 ; number:9 ; pages:945-946 ; extent:2 |
| Links: |
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| DOI / URN: |
10.1016/j.parkreldis.2014.06.020 |
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| 520 | |a Recently, it has been reported that carriers of a hemizygous chromosome 22q11.2 deletion may be at increased risk of early-onset Parkinson's disease. Herein, we propose a hypothesis that it is not the microdeletion per se that is responsible for the phenotype but rather a complete loss of function of a gene within the region due to the combination of the deletion and another mutation on the alternate allele. Thus we propose the deletion may be highlighting a novel locus for a recessive form of early-onset Parkinson's disease. | ||
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Recently, it has been reported that carriers of a hemizygous chromosome 22q11.2 deletion may be at increased risk of early-onset Parkinson's disease. Herein, we propose a hypothesis that it is not the microdeletion per se that is responsible for the phenotype but rather a complete loss of function of a gene within the region due to the combination of the deletion and another mutation on the alternate allele. Thus we propose the deletion may be highlighting a novel locus for a recessive form of early-onset Parkinson's disease. |
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Recently, it has been reported that carriers of a hemizygous chromosome 22q11.2 deletion may be at increased risk of early-onset Parkinson's disease. Herein, we propose a hypothesis that it is not the microdeletion per se that is responsible for the phenotype but rather a complete loss of function of a gene within the region due to the combination of the deletion and another mutation on the alternate allele. Thus we propose the deletion may be highlighting a novel locus for a recessive form of early-onset Parkinson's disease. |
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Recently, it has been reported that carriers of a hemizygous chromosome 22q11.2 deletion may be at increased risk of early-onset Parkinson's disease. Herein, we propose a hypothesis that it is not the microdeletion per se that is responsible for the phenotype but rather a complete loss of function of a gene within the region due to the combination of the deletion and another mutation on the alternate allele. Thus we propose the deletion may be highlighting a novel locus for a recessive form of early-onset Parkinson's disease. |
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