Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.

doi:10.1101/gr.199430.115

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Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.

Genome research - 1 Feb 2016

Spielmann Malte, Kakar Naseebullah, Tayebi Naeimeh, Leettola Catherine, Nürnberg Gudrun, Sowada Nadine, Lupiáñez Darío G, Harabula Izabela, Flöttmann Ricarda, Horn Denise, Chan Wing Lee, Wittler Lars, Yilmaz Rüstem, Altmüller Janine, Thiele Holger, van Bokhoven Hans, Schwartz Charles E, Nürnberg Peter, Bowie James U, Ahmad Jamil, Kubisch Christian, Mundlos Stefan, Borck Guntram

Abstract excerpt

The CRISPR/Cas technology enables targeted genome editing and the rapid generation of transgenic animal models for the study of human genetic disorders. Here we describe an autosomal recessive human disease in two unrelated families characterized by a split-foot defect, nail abnormalities of the hands, and hearing loss, due to mutations disrupting the SAM domain of the protein kinase ZAK. ZAK is a member of the...

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PMID: 26755636
DOI: 10.1101/gr.199430.115
PMCID: PMC4728371

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