KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

doi:10.1038/ng.826

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Article

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Nature genetics - 1 Jun 2011

Putoux Audrey, Thomas Sophie, Coene Karlien L M, Davis Erica E, Alanay Yasemin, Ogur Gönül, Uz Elif, Buzas Daniela, Gomes Céline, Patrier Sophie, Bennett Christopher L, Elkhartoufi Nadia, Frison Marie-Hélène Saint, Rigonnot Luc, Joyé Nicole, Pruvost Solenn, Utine Gulen Eda, Boduroglu Koray, Nitschke Patrick, Fertitta Laura, Thauvin-Robinet Christel, Munnich Arnold, Cormier-Daire Valérie, Hennekam Raoul, Colin Estelle, Akarsu Nurten Ayse, Bole-Feysot Christine, Cagnard Nicolas, Schmitt Alain, Goudin Nicolas, Lyonnet Stanislas, Encha-Razavi Férechté, Siffroi Jean-Pierre, Winey Mark, Katsanis Nicholas, Gonzales Marie, Vekemans Michel, Beales Philip L, Attié-Bitach Tania

Abstract excerpt

KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation disorders with overlapping features that include polydactyly, brain abnormalities and cleft palate. Consistent with a role of KIF7 in Hedgehog signaling, we show deregulation of most GLI...

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Identifiers

PMID: 21552264
DOI: 10.1038/ng.826
PMCID: PMC3674836

Genes

KIF7
GLI3

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Source receipt: pubmed, retrieved 7 Sept 2026.

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