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Article

KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.

Human genetics - 1 Mar 2023

Almannai Mohammed, AlAbdi Lama, Maddirevula Sateesh, Alotaibi Maha, Alsaleem Badr M, Aljadhai Yaser I, Alsaif Hessa S, Abukhalid Musaad, Alkuraya Fowzan S

Abstract excerpt

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...

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PMID: 36564622
DOI: 10.1007/s00439-022-02513-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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