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



Fazeli W1, 2, 3 ; Bamborschke D1, 4 ; Moawia A1, 4 ; Bakhtiari S5, 6 ; Tafakhori A7 ; Giersdorf M1 ; Hahn A8 ; Weik A9 ; Kolzter K10 ; Shafiee S11 ; Jin SC12 ; Korber F13 ; Leekirsch MA14 ; Darvish H15 Show All Authors
Authors
  1. Fazeli W1, 2, 3
  2. Bamborschke D1, 4
  3. Moawia A1, 4
  4. Bakhtiari S5, 6
  5. Tafakhori A7
  6. Giersdorf M1
  7. Hahn A8
  8. Weik A9
  9. Kolzter K10
  10. Shafiee S11
  11. Jin SC12
  12. Korber F13
  13. Leekirsch MA14
  14. Darvish H15
  15. Cirak S1, 4
  16. Kruer MC5, 6
  17. Koy A1

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
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