Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations

Adriana Lo-Castro, Francesco Brancati, Maria Cristina Digilio, Francesco Giuseppe Garaci, Patrizio Bollero, Paolo Alfieri, Paolo Curatolo

Research output: Contribution to journalArticlepeer-review


KBG syndrome is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, skeletal abnormalities, and developmental delay. Recently, mutations in ANKRD11 gene have been identified in a subset of patients with KBG syndrome, while a contiguous gene deletion syndrome involving 16q24.3 region (including ANKRD11) was delineated in patients with facial dysmorphism, autism, intellectual disability, and brain abnormalities. Although numerous evidences point to a central causative role of ANKRD11 in the neurologic features of these patients, their neurocognitive and behavior phenotypes are still poorly characterized. Herein, we report the complete neurological and psychiatric features observed in two patients with KBG syndrome due to ANKRD11 mutations. Both patients show intellectual disabilities, severe impairment in communication skills, deficits in several aspects of executive functions and working memory and anxious traits. Their features are compared with those of previously reported patients with KBG syndrome aiding in the delineation of neurocognitive phenotype associated to ANKRD11 mutations.

Original languageEnglish
Pages (from-to)17-23
Number of pages7
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number1
Publication statusPublished - Jan 2013


  • 16q24.3 deletion
  • ANKRD11
  • Autism spectrum disorders
  • Epilepsy
  • KBG syndrome
  • Mental retardation
  • Neurobehavioral phenotype

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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