10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence

Am J Med Genet A. 2017 Mar;173(3):762-765. doi: 10.1002/ajmg.a.38080.

Abstract

Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder. This case expands the mild end of the neurodevelopmental spectrum seen in children with de novo KANSL1 mutation and KdVS. © 2017 Wiley Periodicals, Inc.

Keywords: 17q21.31 microdeletion syndrome; KANSL1-related intellectual disability; Koolen-de Vries Syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Alleles
  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 17 / genetics
  • Female
  • Frameshift Mutation
  • Genetic Association Studies*
  • Hearing Loss / diagnosis
  • Hearing Loss / genetics
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Intelligence / genetics
  • Mutation*
  • Neuropsychological Tests
  • Nuclear Proteins / genetics*
  • Phenotype*
  • Verbal Behavior

Substances

  • NSL1 protein, human
  • Nuclear Proteins

Supplementary concepts

  • Chromosome 17q21.31 Deletion Syndrome