Universität zu Köln

Fazeli, Walid, Bamborschke, Daniel, Moawia, Abubakar, Bakhtiari, Somayeh, Tafakhori, Abbas, Giersdorf, Matthias, Hahn, Andreas, Weik, Anja, Kolzter, Kirsten, Shafiee, Sajad, Jin, Sheng Chih ORCID: 0000-0002-5777-7262, Koerber, Friederike, Lee-Kirsch, Min Ae, Darvish, Hossein, Cirak, Sebahattin, Kruer, Michael C. and Koy, Anne (2022). The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature. Eur. J. Paediatr. Neurol., 36. S. 7 - 14. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Fazeli, Walid UNSPECIFIED UNSPECIFIED UNSPECIFIED Bamborschke, Daniel UNSPECIFIED UNSPECIFIED UNSPECIFIED Moawia, Abubakar UNSPECIFIED UNSPECIFIED UNSPECIFIED Bakhtiari, Somayeh UNSPECIFIED UNSPECIFIED UNSPECIFIED Tafakhori, Abbas UNSPECIFIED UNSPECIFIED UNSPECIFIED Giersdorf, Matthias UNSPECIFIED UNSPECIFIED UNSPECIFIED Hahn, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED Weik, Anja UNSPECIFIED UNSPECIFIED UNSPECIFIED Kolzter, Kirsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Shafiee, Sajad UNSPECIFIED UNSPECIFIED UNSPECIFIED Jin, Sheng Chih UNSPECIFIED orcid.org/0000-0002-5777-7262 UNSPECIFIED Koerber, Friederike UNSPECIFIED UNSPECIFIED UNSPECIFIED Lee-Kirsch, Min Ae UNSPECIFIED UNSPECIFIED UNSPECIFIED Darvish, Hossein UNSPECIFIED UNSPECIFIED UNSPECIFIED Cirak, Sebahattin UNSPECIFIED UNSPECIFIED UNSPECIFIED Kruer, Michael C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Koy, Anne UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-693904
DOI:	10.1016/j.ejpn.2021.10.011
Journal or Publication Title:	Eur. J. Paediatr. Neurol.
Volume:	36
Page Range:	S. 7 - 14
Date:	2022
Publisher:	ELSEVIER SCI LTD
Place of Publication:	OXFORD
ISSN:	1532-2130
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MUTATIONS; TREX1; RNASEH2A; SAMHD1; ADAR Multiple languages Clinical Neurology; Pediatrics Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/69390