Title
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Kufor-Rakeb Syndrome/PARK9 : one novel and one possible recurring ashkenazi ATP13A2 mutation
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Author
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Abstract
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Kufor-Rakeb syndrome (KRS)/PARK9 presents with autosomal recessive young onset Parkinson's disease (YOPD), spastic paraparesis, abnormal eye movements and facial myokymia. KRS is caused by homozygous/compound heterozygous inactivating mutations in ATP13A2. Two affected siblings (born to non-consanguineous Jewish parents) presenting a similar KRS phenotype (onset age 27, 23), carried compound heterozygous pathogenic variants in ATP13A2:c. 217_218insG and c. 3057delC. Allele frequency of the c. 3057delC mutation was about 100 times higher in Ashkenazi controls in our study (1/190 = 0.00526) and in the Genome Aggregation Database, (GnomAD, 27/10132 = 0.002665) versus non-Ashkenazi controls worldwide in GnomAD (9/264566 = 0.000034018, p < 0.0001). The c.217 218insG mutation is novel and not found in controls or GnomAD. The c.3057delC mutation should be included in the genetic workup of Ashkenazi YOPD patients. |
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Language
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English
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Source (journal)
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Journal of Parkinson's Disease
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Publication
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2018
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ISSN
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1877-7171
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DOI
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10.3233/JPD-181360
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Volume/pages
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8
:3
(2018)
, p. 399-403
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ISI
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000441665600004
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Pubmed ID
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29966207
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Full text (Publisher's DOI)
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Full text (open access)
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