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bioRxiv · 10.1101/097030

TMEM230 is not a gene for Parkinson disease

Farrer, M. J.·Milnerwood, A. J.·Follett, J.·Guella, I.
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Abstract

Deng et al. report the discovery of TMEM230 c.422G>T (p.Arg141Leu) mutation as a cause of late-onset, autosomal dominant Parkinsons disease (PD)1 in the same pedigree in which we previously assigned DNAJC13 c.2564A>G (p.Asn855Ser) as pathogenic2. The chromosome 20pter-p12 locus was discovered by short tandem-repeat (STR) genotyping and linkage analysis, with subsequent exome sequencing in four affected (II-4, III-1, III-20 and III-26) and one unaffected family member. Deng et al. state the rationale for their re-analysis was the inconsistency of genotype-phenotype correlations for DNAJC13 c.2564A>G (p.Asn855Ser), this mutation being absent in three affected family members (II-1, III-1 and III-23). However, two of these suffer atypical parkinsonism; II-l had clinical and pathologically-proven progressive supranuclear palsy, not Lewy body PD, whereas his son developed symptoms mor ...

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Farrer, M. J., Milnerwood, A. J., Follett, J., Guella, I.. 2017-01-01. TMEM230 is not a gene for Parkinson disease. https://doi.org/10.1101/097030

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