Familial Presentation of a Rare NCKAP1 Splice-Site Variant Associated With a Neurodevelopmental Disorder and Cutaneous Manifestations.

Abstract excerpt

Pathogenic variants in NCKAP1, a gene encoding a core component of the WAVE regulatory complex (WRC), have recently been implicated in neurodevelopmental disorders (NDDs), but the clinical spectrum remains incompletely characterized. We describe a father and daughter carrying a novel heterozygous NCKAP1 splice-site variant (c.2021+1G>A), both presenting with developmental delay, autistic features, epilepsy, and...

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