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Male patients affected by mosaic PCDH19 mutations: five new cases

de Lange, I. M., Rump, P., Neuteboom, R. F., Augustijn, P. B., Hodges, K., Kistemaker, A. I., Brouwer, O. F., Mancini, G. M. S., Newman, H. A., Vos, Y. J., Helbig, K. L., Peeters-Scholte, C., Kriek, M., Knoers, N. V., Lindhout, D., Koeleman, B. P. C., van Kempen, M. J. A. & Brilstra, E. H., Jul-2017, In : Neurogenetics. 18, 3, p. 147-153 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

  • I. M. de Lange
  • P. Rump
  • R. F. Neuteboom
  • P. B. Augustijn
  • K. Hodges
  • A. I. Kistemaker
  • O. F. Brouwer
  • G. M. S. Mancini
  • H. A. Newman
  • Y. J. Vos
  • K. L. Helbig
  • C. Peeters-Scholte
  • M. Kriek
  • N. V. Knoers
  • D. Lindhout
  • B. P. C. Koeleman
  • M. J. A. van Kempen
  • E. H. Brilstra

Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mechanism named cellular interference. Until now, only four affected mosaic male patients have been described in literature. Here, we report five additional male patients, of which four are older than the oldest patient reported so far. All reported patients were selected for genetic testing because of developmental delay and/or epilepsy. Custom-targeted next generation sequencing gene panels for epilepsy genes were used. Clinical data were collected from medical records. All patients were mosaic in blood for likely pathogenic variants in the PCDH19 gene. In most, clinical features were very similar to the female phenotype, with normal development before seizure onset, which occurred between 5 and 10 months of age, clustering of seizures and sensitivity to fever. Four out of five patients had mild to severe ID and behavioural problems. We reaffirm the similarity between male and female PCDH19-related phenotypes, now also in a later phase of the disorder (ages 10-14 years).

Original languageEnglish
Pages (from-to)147-153
Number of pages7
JournalNeurogenetics
Volume18
Issue number3
Publication statusPublished - Jul-2017

    Keywords

  • PCDH19, Mosaicism, Epilepsy, Intellectual disability, PROTOCADHERIN 19 MUTATIONS, FEMALE-LIMITED EPILEPSY, GENE-RELATED EPILEPSY, MENTAL-RETARDATION, PCDH19-RELATED EPILEPSY, DE-NOVO, ENCEPHALOPATHY, DISORDER, SPECTRUM

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