Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations1. Issue 1 (26th November 2012)

• Record Type: Journal Article
• Authors: Lo‐Castro, Adriana; Brancati, Francesco; Digilio, Maria Cristina; Garaci, Francesco Giuseppe; Bollero, Patrizio; Alfieri, Paolo; Curatolo, Paolo
• Is Part Of: American journal of medical genetics. Volume 162:Issue 1(2013)
• Page Start: 17
• Page End: 23
• Publication Date: 2012-11-26
• Subjects: Neuropsychiatry -- Periodicals; Medical genetics -- Periodicals; 616.8904205
• DOI: 10.1002/ajmg.b.32113
• Languages: English
• ISSNs: 1552-4841

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <p>KBG syndrome is a rare disease characterized by typical facial dysmorphism, macrodontia of upper central incisors, skeletal abnormalities, and developmental delay. Recently, mutations in <italic>ANKRD11</italic> gene have been identified in a subset of patients with KBG syndrome, while a contiguous gene deletion syndrome involving 16q24.3 region (including <italic>ANKRD11</italic>) was delineated in patients with facial dysmorphism, autism, intellectual disability, and brain abnormalities. Although numerous evidences point to a central causative role of <italic>ANKRD11</italic> 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 <italic>ANKRD11</italic> 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 <italic>ANKRD11</italic> mutations. © 2012 Wiley Periodicals, Inc.</p> </abstract>