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Article

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Nature genetics - 29 Apr 2012

Zollino Marcella, Orteschi Daniela, Murdolo Marina, Lattante Serena, Battaglia Domenica, Stefanini Chiara, Mercuri Eugenio, Chiurazzi Pietro, Neri Giovanni, Marangi Giuseppe

Abstract excerpt

The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22544367
DOI: 10.1038/ng.2257

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Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.PMID 22544367Read ↗

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