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

  • Nat Genet. 2012 Apr 29;44(6):636-8. doi: 10.1038/ng.2257.
Marcella Zollino  1 ,  Daniela Orteschi ,  Marina Murdolo ,  Serena Lattante ,  Domenica Battaglia ,  Chiara Stefanini ,  Eugenio Mercuri ,  Pietro Chiurazzi ,  Giovanni Neri ,  Giuseppe Marangi
Affiliations
  • 1. Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy. [email protected]
PMID: 22544367 DOI: 10.1038/ng.2257
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.