Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.

doi:10.1111/cge.14621

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Article

Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.

Clinical genetics - 1 Jan 2025

Nosrati Mohammad Sadegh Shams, Doustmohammadi Alireza, Severino Mariasavina, Romano Ferruccio, Zafari Mahdi, Nemati Amir Hesam, Velmans Clara, Netzer Christian, Breuer Jonas, Broekaert Ilse Julia, Joachim Alexander, Almasri Nihad, Kruer Michael C, Skidmore Peter, Bisarad Pritha, Hoque Jumana, Bakhtiari Somayeh, Torella Annalaura, Nigro Vincenzo, Buffelli Francesca, Fulcheri Ezio, Müller Annette, Zara Federico, Capra Valeria, Scala Marcello

Abstract excerpt

Pediatric intestinal pseudo-obstruction (PIPO) is a rare congenital disorder of the enteric nervous system with distal colon aganglionosis potentially leading to intestinal obstruction. Recently, biallelic variants in KIF26A, encoding a crucial motor protein for the migration and differentiation of enteric neural crest cells, have been associated with a neurodevelopmental condition featuring cortical defects and...

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PMID: 39305096
DOI: 10.1111/cge.14621
PMCID: PMC11608842

Genes

KIF26A

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