ArticleHuman genetics2023
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Article in Human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- The unconventional kinesin Kif26a is required for the guidance of major axon tracts in the developing mouse brain.bioRxiv : the preprint server for biology · 2026Article
- Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.Clinical genetics · 2025Article
- Congenital cranial dysinnervation disorder with homozygous KIF26A variant.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2024Article
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Authors and funding
9 authors at 6 institutions in 1 country.
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Abstract
Human disorders of the enteric nervous system (ENS), e.g., Hirschsprung's disease, are rarely associated with major central nervous system involvement. We describe two families each segregating a different homozygous truncating variant in KIF26A with a unique constellation of severe megacolon that resembles Hirschsprung's disease but lacks aganglionosis as well as brain malformations that range from severe to mild. The intestinal phenotype bears a striking resemblance to that observed in Kif26a
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