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dc.contributor.authorAmmous, Z.
dc.contributor.authorRawlins, L. E.
dc.contributor.authorJones, H.
dc.contributor.authorLeslie, J. S.
dc.contributor.authorWenger, O.
dc.contributor.authorScott, E.
dc.contributor.authorDeline, J.
dc.contributor.authorHerr, T.
dc.contributor.authorEvans, R.
dc.contributor.authorScheid, A.
dc.contributor.authorKennedy, J.
dc.contributor.authorChioza, B. A.
dc.contributor.authorAmes, R. M.
dc.contributor.authorCross, H. E.
dc.contributor.authorPuffenberger, E. G.
dc.contributor.authorHarries, L.
dc.contributor.authorBaple, E. L.
dc.contributor.authorCrosby, A. H.
dc.identifier.citationPLoS Genet. 2021 Sep 27;17(9):e1009803. doi: 10.1371/journal.pgen.1009803. eCollection 2021 Sep.
dc.description.abstractSNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor of the TGF-β signal-transduction pathway which plays a key role in human spliceosome function. Here, we describe extensive genetic studies and clinical findings of a complex inherited neurodevelopmental disorder in 35 individuals associated with a SNIP1 NM_024700.4:c.1097A>G, p.(Glu366Gly) variant, present at high frequency in the Amish community. The cardinal clinical features of the condition include hypotonia, global developmental delay, intellectual disability, seizures, and a characteristic craniofacial appearance. Our gene transcript studies in affected individuals define altered gene expression profiles of a number of molecules with well-defined neurodevelopmental and neuropathological roles, potentially explaining clinical outcomes. Together these data confirm this SNIP1 gene variant as a cause of an autosomal recessive complex neurodevelopmental disorder and provide important insight into the molecular roles of SNIP1, which likely explain the cardinal clinical outcomes in affected individuals, defining potential therapeutic avenues for future research.
dc.publisherPLoS One
dc.rights©2021 Ammouset al.
dc.titleA biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder
dc.typeJournal Article
dc.identifier.journalPLoS genetics
dc.description.noteThis article is freely available online. Click on the 'Additional Link' above to access the full-text via the publisher's site.
dc.description.admin-noteNot permitted

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