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Article

Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.

American journal of medical genetics. Part A - 1 Aug 2021

Poole Rebecca L, Curry Philippa D K, Marcinkute Ruta, Brewer Carole, Coman David, Hobson Emma, Johnson Diana, Lynch Sally Ann, Saggar Anand, Searle Claire, Scurr Ingrid, Turnpenny Peter D, Vasudevan Pradeep, Tatton-Brown Katrina

Abstract excerpt

Smith-Kingsmore Syndrome (SKS) is a rare genetic syndrome associated with megalencephaly, a variable intellectual disability, autism spectrum disorder, and MTOR gain of function variants. Only 30 patients with MTOR missense variants are published, including 14 (47%) with the MTOR c.5395G>A p.(Glu1799Lys) variant. Limited phenotypic data impacts the quality of information delivered to families and the robustness...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34032352
DOI: 10.1002/ajmg.a.62350

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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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