How to Cite this Article: Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P. 2012. Neurobehavioral Phenotype Observed in KBG Syndrome Caused by ANKRD11 Mutations. Am J Med Genet Part B 162B:17–23.
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations†
Article first published online: 26 NOV 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 162, Issue 1, pages 17–23, January 2013
How to Cite
Lo-Castro, A., Brancati, F., Digilio, M. C., Garaci, F. G., Bollero, P., Alfieri, P. and Curatolo, P. (2013), Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. Am. J. Med. Genet., 162: 17–23. doi: 10.1002/ajmg.b.32113
- Issue published online: 18 DEC 2012
- Article first published online: 26 NOV 2012
- Manuscript Accepted: 9 OCT 2012
- Manuscript Received: 16 JUL 2012
- 16q24.3 deletion;
- KBG syndrome;
- neurobehavioral phenotype;
- autism spectrum disorders;
- mental retardation;
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. © 2012 Wiley Periodicals, Inc.