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Case Reports
. 2012 Apr 29;44(6):636-8.
doi: 10.1038/ng.2257.

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

Marcella Zollino  1 , Daniela Orteschi, Marina Murdolo, Serena Lattante, Domenica Battaglia, Chiara Stefanini, Eugenio Mercuri, Pietro Chiurazzi, Giovanni Neri, Giuseppe Marangi
Affiliations
Case Reports

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

Marcella Zollino et al. Nat Genet. .

Abstract

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 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1.

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References

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