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

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

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  • 1Istituto di Genetica Medica, Universit√† Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy. mzollino@rm.unicatt.it

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.

PMID:
22544367
[PubMed - indexed for MEDLINE]
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