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Article

Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.

PLoS genetics - 1 Jul 2021

Besterman Aaron D, Althoff Thorsten, Elfferich Peter, Gutierrez-Mejia Irma, Sadik Joshua, Bernstein Jonathan A, van Ierland Yvette, Kattentidt-Mouravieva Anja A, Nellist Mark, Abramson Jeff, Martinez-Agosto Julian A

Abstract excerpt

Smith-Kingsmore syndrome (SKS) is a rare neurodevelopmental disorder characterized by macrocephaly/megalencephaly, developmental delay, intellectual disability, hypotonia, and seizures. It is caused by dominant missense mutations in MTOR. The pathogenicity of novel variants in MTOR in patients with neurodevelopmental disorders can be difficult to determine and the mechanism by which variants cause disease remains...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34197453
DOI: 10.1371/journal.pgen.1009651
PMCID: PMC8279410

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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