Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations

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 syn...

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Bibliographic Details
Published in:American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2013-01, Vol.162B (1), p.17-23
Main Authors: Lo-Castro, Adriana, Brancati, Francesco, Digilio, Maria Cristina, Garaci, Francesco Giuseppe, Bollero, Patrizio, Alfieri, Paolo, Curatolo, Paolo
Format: Article
Language:English
Subjects:
16q24.3 deletion
Abnormalities, Multiple - genetics
Adolescent
ANKRD11
Autism
autism spectrum disorders
Behavior
Bone Diseases, Developmental - genetics
Child
Child, Preschool
Chromosome Deletion
Cognition
epilepsy
Facies
Genetics
Humans
Infant
Infant, Newborn
Intellectual Disability - genetics
KBG syndrome
Magnetic Resonance Imaging
Male
mental retardation
Mutation - genetics
neurobehavioral phenotype
Phenotype
Repressor Proteins - genetics
Tooth Abnormalities - genetics
Young Adult
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Summary: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.
ISSN:1552-4841
1552-485X
DOI:10.1002/ajmg.b.32113