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dc.contributor.authorSowada, Nadine
dc.contributor.authorHashem, Mais Omar
dc.contributor.authorYilmaz, Rüstem
dc.contributor.authorHamad, Muddathir
dc.contributor.authorKakar, Naseebullah
dc.contributor.authorThiele, Holger
dc.contributor.authorArold, Stefan T.
dc.contributor.authorBode, Harald
dc.contributor.authorAlkuraya, Fowzan S.
dc.contributor.authorBorck, Guntram
dc.date.accessioned2018-01-01T12:19:00Z
dc.date.available2018-01-01T12:19:00Z
dc.date.issued2017-10-31
dc.identifier.citationSowada N, Hashem MO, Yilmaz R, Hamad M, Kakar N, et al. (2017) Mutations of PTPN23 in developmental and epileptic encephalopathy. Human Genetics 136: 1455–1461. Available: http://dx.doi.org/10.1007/s00439-017-1850-3.
dc.identifier.issn0340-6717
dc.identifier.issn1432-1203
dc.identifier.pmid29090338
dc.identifier.doi10.1007/s00439-017-1850-3
dc.identifier.urihttp://hdl.handle.net/10754/626581
dc.description.abstractDevelopmental and epileptic encephalopathies (DEE) are a heterogeneous group of neurodevelopmental disorders with poor prognosis. Recent discoveries have greatly expanded the repertoire of genes that are mutated in epileptic encephalopathies and DEE, often in a de novo fashion, but in many patients, the disease remains molecularly uncharacterized. Here, we describe a new form of DEE in patients with likely deleterious biallelic variants in PTPN23. The phenotype is characterized by early onset drug-resistant epilepsy, severe and global developmental delay, microcephaly, and sometimes premature death. PTPN23 encodes a tyrosine phosphatase with strong brain expression, and its knockout in mouse is embryonically lethal. Structural modeling supports a deleterious effect of the identified alleles. Our data suggest that PTPN23 mutations cause a rare severe form of autosomal-recessive DEE in humans, a finding that requires confirmation.
dc.description.sponsorshipWe thank the families for their participation in this research project. The research by STA reported in this publication was supported by funding from King Abdullah University of Science and Technology (KAUST). The exome analysis was performed on CHEOPS, a high performance computer cluster of the regional data center of the University of Cologne (RRZK), funded by the Deutsche Forschungsgemeinschaft (DFG). We acknowledge the support of the Saudi Human Genome Program.
dc.publisherSpringer Nature
dc.relation.urlhttp://link.springer.com/article/10.1007/s00439-017-1850-3
dc.titleMutations of PTPN23 in developmental and epileptic encephalopathy
dc.typeArticle
dc.contributor.departmentBiological and Environmental Sciences and Engineering (BESE) Division
dc.contributor.departmentComputational Bioscience Research Center (CBRC)
dc.identifier.journalHuman Genetics
dc.contributor.institutionInstitute of Human Genetics, University of Ulm, Ulm, Germany
dc.contributor.institutionDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
dc.contributor.institutionDepartment of Pediatrics, King Khalid University Hospital, Riyadh, Saudi Arabia
dc.contributor.institutionDepartment of Biotechnology, BUITEMS, Quetta, Pakistan
dc.contributor.institutionCologne Center for Genomics, University of Cologne, Cologne, Germany
dc.contributor.institutionDivision of Pediatric Neurology, Children’s Hospital, University of Ulm, Ulm, Germany
dc.contributor.institutionSaudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia
kaust.personArold, Stefan T.


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