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

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


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 17
  • Facies
  • Female
  • Haploinsufficiency
  • Humans
  • Intellectual Disability / genetics
  • Nuclear Proteins / genetics*
  • Phenotype
  • Smith-Magenis Syndrome
  • Syndrome


  • NSL1 protein, human
  • Nuclear Proteins

Supplementary concepts

  • Chromosome 17 deletion