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dc.contributor.authorChmielewska, J. J.
dc.contributor.authorBurkardt, D.
dc.contributor.authorGranadillo, J. L.
dc.contributor.authorSlaugh, R.
dc.contributor.authorMorgan, S.
dc.contributor.authorRotenberg, J.
dc.contributor.authorKeren, B.
dc.contributor.authorMignot, C.
dc.contributor.authorEscobar, L.
dc.contributor.authorTurnpenny, P.
dc.contributor.authorZuteck, M.
dc.contributor.authorSeaver, L. H.
dc.contributor.authorPloski, R.
dc.contributor.authorDziembowska, M.
dc.contributor.authorWynshaw-Boris, A.
dc.contributor.authorAdegbola, A.
dc.identifier.citationHGG Adv. 2021 Jul 8;2(3):100033. doi: 10.1016/j.xhgg.2021.100033. Epub 2021 Apr 5.
dc.description.abstractProtein-tyrosine phosphatases (PTPs) are pleomorphic regulators of eukaryotic cellular responses to extracellular signals that function by modulating the phosphotyrosine of specific proteins. A handful of PTPs have been implicated in germline and somatic human disease. Using exome sequencing, we identified missense and truncating variants in PTPN4 in six unrelated individuals with varying degrees of intellectual disability or developmental delay. The variants occurred de novo in all five subjects in whom segregation analysis was possible. Recurring features include postnatal growth deficiency or excess, seizures, and, less commonly, structural CNS, heart, or skeletal anomalies. PTPN4 is a widely expressed protein tyrosine phosphatase that regulates neuronal cell homeostasis by protecting neurons against apoptosis. We suggest that pathogenic variants in PTPN4 confer risk for growth and cognitive abnormalities in humans.
dc.publisherCell Press
dc.rights© 2021 The Authors.
dc.titlePTPN4 germline variants result in aberrant neurodevelopment and growth
dc.typeJournal Article
dc.identifier.journalHGG advances
dc.description.noteThe article is available via Open Access. Click on the 'Additional link' above to access the full-text.

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© 2021 The Authors.
Except where otherwise noted, this item's license is described as © 2021 The Authors.