The Phenotypic Spectrum of Pcdh12 Associated Disorders - Five New Cases and Review of the Literature

The Phenotypic Spectrum of Pcdh12 Associated Disorders - Five New Cases and Review of the Literature Publisher Pubmed

Fazeli W^{1, 2, 3} ; Bamborschke D^{1, 4} ; Moawia A^{1, 4} ; Bakhtiari S^{5, 6} ; Tafakhori A⁷ ; Giersdorf M¹ ; Hahn A⁸ ; Weik A⁹ ; Kolzter K¹⁰ ; Shafiee S¹¹ ; Jin SC¹² ; Korber F¹³ ; Leekirsch MA¹⁴ ; Darvish H¹⁵ Show All Authors

Fazeli W^{1, 2, 3}
Bamborschke D^{1, 4}
Moawia A^{1, 4}
Bakhtiari S^{5, 6}
Tafakhori A⁷
Giersdorf M¹
Hahn A⁸
Weik A⁹
Kolzter K¹⁰
Shafiee S¹¹
Jin SC¹²
Korber F¹³
Leekirsch MA¹⁴
Darvish H¹⁵
Cirak S^{1, 4}
Kruer MC^{5, 6}
Koy A¹

Show Affiliations

1. Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
2. Institute for Molecular and Behavioral Neuroscience, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
3. Department of Neuropediatrics, University Hospital Bonn, Bonn, Germany
4. Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
5. Pediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, United States
6. Departments of Child Health, Cellular & Molecular Medicine, and Neurology and Program in Genetics, University of Arizona College of Medicine Phoenix, Phoenix, AZ, United States
7. Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran
8. Department of Child Neurology, Justus-Liebig-University Giessen, Giessen, Germany
9. CeGAT GmbH and Praxis fur Humangenetik Tubingen, Tubingen, Germany
10. Children's Hospital Amsterdamer StraÃŸe, Kliniken der Stadt Koln, Cologne, Germany
11. Neurological Surgery Department, Mazandaran University of Medical Sciences, Sari, Iran
12. Department of Genetics, Washington University School of Medicine, St. Louis, MO, United States
13. Department of Radiology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
14. Department of Pediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany
15. Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran

Source: European Journal of Paediatric Neurology Published:2022

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. © 2021 European Paediatric Neurology Society

Experts (# of related papers)

Mahmoudreza Ashrafi (1)

Ali Reza Tavasoli (1)

Style	Citing Format
MLA	Fazeli W, et al.. "The Phenotypic Spectrum of Pcdh12 Associated Disorders - Five New Cases and Review of the Literature." European Journal of Paediatric Neurology, vol. 36, no. , 2022, pp. 7-13.
APA	Fazeli W, Bamborschke D, Moawia A, Bakhtiari S, Tafakhori A, Giersdorf M, Hahn A, Weik A, Kolzter K, Shafiee S, Jin SC, Korber F, Leekirsch MA, Darvish H, Cirak S, Kruer MC, 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.
Chicago	Fazeli W, Bamborschke D, Moawia A, Bakhtiari S, Tafakhori A, Giersdorf M, Hahn A, et al.. "The Phenotypic Spectrum of Pcdh12 Associated Disorders - Five New Cases and Review of the Literature." European Journal of Paediatric Neurology 36, no. (2022): 7-13.
Harvard	Fazeli W 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.
Vancouver	Fazeli W, Bamborschke D, Moawia A, Bakhtiari S, Tafakhori A, Giersdorf M, et al.. The Phenotypic Spectrum of Pcdh12 Associated Disorders - Five New Cases and Review of the Literature. European Journal of Paediatric Neurology. 2022;36():7-13.
BibTex	@article{ author = {Fazeli W and Bamborschke D and Moawia A and Bakhtiari S and Tafakhori A and Giersdorf M and Hahn A and Weik A and Kolzter K and Shafiee S and Jin SC and Korber F and Leekirsch MA and Darvish H and Cirak S and Kruer MC and Koy A}, title = {The Phenotypic Spectrum of Pcdh12 Associated Disorders - Five New Cases and Review of the Literature}, journal = {European Journal of Paediatric Neurology}, volume = {36}, number = {}, pages = {7-13}, year = {2022} }
RIS	TY - JOUR AU - Fazeli W AU - Bamborschke D AU - Moawia A AU - Bakhtiari S AU - Tafakhori A AU - Giersdorf M AU - Hahn A AU - Weik A AU - Kolzter K AU - Shafiee S AU - Jin SC AU - Korber F AU - Leekirsch MA AU - Darvish H AU - Cirak S AU - Kruer MC AU - Koy A TI - The Phenotypic Spectrum of Pcdh12 Associated Disorders - Five New Cases and Review of the Literature JO - European Journal of Paediatric Neurology VL - 36 IS - SP - 7 EP - 13 PY - 2022 ER -

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