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In a cohort of 183 Cerebral palsy cases subjected to whole-exome sequencing, de novo protein-altering variants were identified in 43 of 98 case-parent trios. Among six novel candidate genes, one RFX2 de novo missense variant c.272A>G (p.Tyr91Cys) was detected in a single proband, implicating RFX2 in CP pathogenesis (PMID:25666757). This solitary observation provides limited genetic evidence with no additional segregation or recurrence, and the mechanistic role of RFX2 in motor and posture dysfunction remains uncharacterized.
Gene–Disease AssociationLimitedSingle de novo missense variant in one CP proband with no replication or segregation ([PMID:25666757]) Genetic EvidenceLimitedOne de novo protein-altering variant in RFX2 in a case-parent trio without additional affected relatives ([PMID:25666757]) Functional EvidenceLimitedNo functional data linking RFX2 variants to cerebral palsy |