A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome

Ann Lab Med. 2014 Sep;34(5):390-4. doi: 10.3343/alm.2014.34.5.390. Epub 2014 Aug 21.


KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11 gene (ANKRD11) has recently been identified as a causal factor of this syndrome. We describe a 6-yr-old Korean boy with features of KBG syndrome. The patient had a short stature, macrodontia, dysmorphic facial features, speech and motor delay with intellectual disability, and partial seizures as indicated by the electroencephalogram, but he was neither autistic nor had autism spectrum disorders. Using high-resolution oligonucleotide array comparative genomic hybridization, we identified a heterozygous 240-kb deletion at 16q24.3 corresponding to ANKRD11. This patient provided additional evidence on the influence of ANKRD11 in KBG syndrome and suggested that deletion limited to ANKRD11 is unlikely to cause autism.

Keywords: 16q24.3 microdeletion; ANKRD11; Array CGH; KBG syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Asian Continental Ancestry Group / genetics*
  • Bone Diseases, Developmental / diagnosis
  • Bone Diseases, Developmental / genetics*
  • Child
  • Chromosomes, Human, Pair 16
  • Comparative Genomic Hybridization
  • Electroencephalography
  • Facies
  • Gene Deletion
  • Heterozygote
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Phenotype
  • Repressor Proteins / genetics*
  • Republic of Korea
  • Tooth Abnormalities / diagnosis
  • Tooth Abnormalities / genetics*


  • ANKRD11 protein, human
  • Repressor Proteins

Supplementary concepts

  • KBG syndrome