Journal article
Authors list: Fazeli, Walid; Bamborschke, Daniel; Moawia, Abubakar; Bakhtiari, Somayeh; Tafakhori, Abbas; Giersdorf, Matthias; Hahn, Andreas; Weik, Anja; Kolzter, Kirsten; Shafiee, Sajad; Jin, Sheng Chih; Koerber, Friederike; Lee-Kirsch, Min Ae; Darvish, Hossein; Cirak, Sebahattin; Kruer, Michael C.; Koy, Anne
Publication year: 2022
Pages: 7-13
Journal: European Journal of Paediatric Neurology
Volume number: 36
ISSN: 1090-3798
eISSN: 1532-2130
Open access status: Green
DOI Link: https://doi.org/10.1016/j.ejpn.2021.10.011
Publisher: Elsevier
PCDH12 is a member of the non-clustered protocadherin family of calcium-dependent cell adhesion proteins, which are involved in the regulation of brain development and endothelial adhesion. To date, only 15 families have been reported with PCDH12 associated disease. The main features previously associated with PCDH12 deficiency are developmental delay, movement disorder, epilepsy, microcephaly, visual impairment, midbrain malformations, and intracranial calcifications. Here, we report novel clinical features such as onset of epilepsy after infancy, episodes of transient developmental regression, and dysplasia of the medulla oblongata associated with three different novel truncating PCDH12 mutations in five cases (three children, two adults) from three unrelated families. Interestingly, our data suggests a clinical overlap with interferonopathies, and we show an elevated interferon score in two pediatric patients. This case series expands the genetic and phenotypic spectrum of PCDH12 associated diseases and highlights the broad clinical variability. (C) 2021 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Abstract:
Citation Styles
Harvard Citation style: Fazeli, W., Bamborschke, D., Moawia, A., Bakhtiari, S., Tafakhori, A., Giersdorf, M., et al. (2022) The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature, European Journal of Paediatric Neurology, 36, pp. 7-13. https://doi.org/10.1016/j.ejpn.2021.10.011
APA Citation style: Fazeli, W., Bamborschke, D., Moawia, A., Bakhtiari, S., Tafakhori, A., Giersdorf, M., Hahn, A., Weik, A., Kolzter, K., Shafiee, S., Jin, S., Koerber, F., Lee-Kirsch, M., Darvish, H., Cirak, S., Kruer, M., & Koy, A. (2022). The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature. European Journal of Paediatric Neurology. 36, 7-13. https://doi.org/10.1016/j.ejpn.2021.10.011
Keywords
ADAR; Brain malformation; Interferonopathy; Intracranial calcification; movement disorder; PCDH12; RNASEH2A; SAMHD1; TREX1
