Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations.

Autor: Jiménez de la Peña M; Neuroimaging. Hospital Universitario Quirónsalud, Madrid, Spain., Fernández-Mayoralas DM; Department of Pediatric Neurology. Hospital Universitario Quirónsalud, Madrid, Spain., López-Martín S; Faculty of Psychology, Universidad Autónoma de Madrid, Spain; Neuromottiva, Madrid, Spain., Albert J; Faculty of Psychology, Universidad Autónoma de Madrid, Spain., Calleja-Pérez B; Pediatric Primary Care. C. S. Doctor Cirajas, Madrid, Spain., Fernández-Perrone AL; Department of Pediatric Neurology. Hospital Universitario Quirónsalud, Madrid, Spain., Jiménez de Domingo A; Department of Pediatric Neurology. Hospital Universitario Quirónsalud, Madrid, Spain., Tirado P; Department of Pediatric Neurology. Hospital Universitario La Paz, Madrid, Spain., Álvarez S; Genomics and Medicine, NIMGenetics, Madrid, Spain., Fernández-Jaén A; Department of Pediatric Neurology. Hospital Universitario Quirónsalud, Madrid, Spain; School of Medicine, Universidad Europea de Madrid, Spain. Electronic address: aferjaen@telefonica.net.
Jazyk: angličtina
Zdroj: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2021 Nov; Vol. 35, pp. 8-15. Date of Electronic Publication: 2021 Sep 16.
DOI: 10.1016/j.ejpn.2021.09.008
Abstrakt: KBG syndrome is characterized by dental, craniofacial and skeletal anomalies, short stature and global developmental delay or intellectual disability. It is caused by microdeletions or truncating mutations of ANKRD11. We report four unrelated probands with this syndrome due to de novo ANKRD11 aberrations that may contribute to a better understanding of the genetics and pathophysiology of this autosomal dominant syndrome. Clinical, cognitive and MRI assessments were performed. Three of the patients showed normal intellectual functioning, whereas the fourth had a borderline level of intellectual functioning. However, all of them showed deficits in various cognitive and socioemotional processes such as attention, executive functions, empathy or pragmatic language. Moreover, all probands displayed marked asymmetry of the uncinate fascicles and an abnormal gyrification pattern in the left frontal lobe. Thus, structural neuroimaging anomalies seem to have been overlooked in this syndrome. Disturbed frontal gyrification and/or lower structural integrity of the uncinate fascisulus might be unrecognized neuroimaging features of KBG syndrome caused by ANKRD11 aberrations. Present results also point out that this syndrome is not necessarily associated with global developmental delay and intellectual disability, but it can be related to other neurodevelopmental disorders or subclinical levels of attention-deficit hyperactivity disorder, autism, communication disorders or specific learning disabilities.
Competing Interests: Declaration of competing interest The authors have no conflict of interest to declare.
(Copyright © 2021 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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