Department of Neuroscience, Child Neurology and Psychiatry Unit, Tor Vergata University Hospital, Rome, Italy.
Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):17-23. doi: 10.1002/ajmg.b.32113. Epub 2012 Nov 26.
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.
KBG 综合征是一种罕见疾病，其特征为典型的面部畸形、上颌中切牙巨齿症、骨骼异常和发育迟缓。最近，在一部分 KBG 综合征患者中发现了 ANKRD11 基因突变，而在面部畸形、自闭症、智力障碍和脑异常的患者中则划定了涉及 16q24.3 区域（包括 ANKRD11）的连续基因缺失综合征。尽管有大量证据表明 ANKRD11 在这些患者的神经特征中起主要作用，但他们的神经认知和行为表型仍未得到充分描述。在此，我们报告了两名因 ANKRD11 突变而患有 KBG 综合征的患者的完整神经和精神特征。两名患者均表现出智力障碍、严重的沟通技能受损、执行功能和工作记忆的多个方面存在缺陷以及焦虑特质。将他们的特征与先前报道的 KBG 综合征患者进行比较，有助于描绘与 ANKRD11 突变相关的神经认知表型。
