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Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

著者 van Eyk CL , Corbett MA , Frank MSB , Webber DL , Newman M , Berry JG , Harper K , Haines BP , McMichael G , Woenig JA , MacLennan AH , Gecz J
NPJ Genom Med.2019 ; 4():27.
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A growing body of evidence points to a considerable and heterogeneous genetic aetiology of cerebral palsy (CP). To identify recurrently variant CP genes, we designed a custom gene panel of 112 candidate genes. We tested 366 clinically unselected singleton cases with CP, including 271 cases not previously examined using next-generation sequencing technologies. Overall, 5.2% of the naïve cases (14/271) harboured a genetic variant of clinical significance in a known disease gene, with a further 4.8% of individuals (13/271) having a variant in a candidate gene classified as intolerant to variation. In the aggregate cohort of individuals from this study and our previous genomic investigations, six recurrently hit genes contributed at least 4% of disease burden to CP: , , , and . Significance of Rare VAriants (SORVA) burden analysis identified four genes with a genome-wide significant burden of variants, , , and , of which we functionally assessed using a zebrafish model. Our investigations reinforce that CP is a heterogeneous neurodevelopmental disorder with known as well as novel genetic determinants.
PMID: 31700678 [PubMed]
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