Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

doi:10.1016/j.ajhg.2015.06.003

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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

American journal of human genetics - 6 Aug 2015

Alby Caroline, Piquand Kevin, Huber Céline, Megarbané André, Ichkou Amale, Legendre Marine, Pelluard Fanny, Encha-Ravazi Ferechté, Abi-Tayeh Georges, Bessières Bettina, El Chehadeh-Djebbar Salima, Laurent Nicole, Faivre Laurence, Sztriha László, Zombor Melinda, Szabó Hajnalka, Failler Marion, Garfa-Traore Meriem, Bole Christine, Nitschké Patrick, Nizon Mathilde, Elkhartoufi Nadia, Clerget-Darpoux Françoise, Munnich Arnold, Lyonnet Stanislas, Vekemans Michel, Saunier Sophie, Cormier-Daire Valérie, Attié-Bitach Tania, Thomas Sophie

Abstract excerpt

KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of the neural tube. Here, we report homozygous mutations of KIAA0586 in four families affected by lethal ciliopathies ranging from a...

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Identifiers

PMID: 26166481
DOI: 10.1016/j.ajhg.2015.06.003
PMCID: PMC4573270

Genes

GLI3
SHH

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