Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

doi:10.1038/s41431-017-0019-9

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Article

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

European journal of human genetics : EJHG - 1 Feb 2018

Asadollahi Reza, Strauss Justin E, Zenker Martin, Beuing Oliver, Edvardson Simon, Elpeleg Orly, Strom Tim M, Joset Pascal, Niedrist Dunja, Otte Christine, Oneda Beatrice, Boonsawat Paranchai, Azzarello-Burri Silvia, Bartholdi Deborah, Papik Michael, Zweier Markus, Haas Cordula, Ekici Arif B, Baumer Alessandra, Boltshauser Eugen, Steindl Katharina, Nothnagel Michael, Schinzel Albert, Stoeckli Esther T, Rauch Anita

Abstract excerpt

Acrocallosal syndrome (ACLS) is an autosomal recessive neurodevelopmental disorder caused by KIF7 defects and belongs to the heterogeneous group of ciliopathies related to Joubert syndrome (JBTS). While ACLS is characterized by macrocephaly, prominent forehead, depressed nasal bridge, and hypertelorism, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis. To evaluate the...

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Identifiers

PMID: 29321670
DOI: 10.1038/s41431-017-0019-9
PMCID: PMC5839020

Genes

KIF7
SHH

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Source receipt: pubmed, retrieved 6 Sept 2026.

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