Kirsten Kolzter, Anne Koy, Michael C Kruer, Sebahattin Cirak, Hossein Darvish, Min Ae Lee-Kirsch, Friederike Körber, Sheng Chih Jin, Sajad Shafiee, Walid Fazeli, Anja Weik, Andreas Hahn, Matthias Giersdorf, Abbas Tafakhori, Somayeh Bakhtiari, Abubakar Moawia, Daniel Bamborschke
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2022;36():7-13
PMID: 34773825
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.
Copyright © 2021 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Full Text Sources:
Medical:
Molecular Biology Databases:
© Copyright 2026, Nutrition Evidence
We use cookies to improve your experience and analyze site traffic with Google Analytics. By continuing to use our site, you agree to our use of cookies. Learn more.