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Article

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.

Clinical genetics - 1 Apr 2018

Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno J C, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares-Bralo M, Del Pozo Á, Ibañez K, Silla J C, Barroso E, Ruiz-Pérez V L, Martinez-Glez V, Lapunzina P

Abstract excerpt

Smith-Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA 457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is characterized by intellectual disability, macrocephaly/hemi/megalencephaly, and seizures. It is also associated with a pattern of facial dysmorphology and other non-neurological features. Germline or mosaic mutations of the mTOR gene have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28892148
DOI: 10.1111/cge.13135

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.PMID 28892148Read ↗

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

[Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review].Semantic proximity Read ↗

A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.Semantic proximity Read ↗

Detailed Clinical and Functional Studies of New MTOR Variants in Smith-Kingsmore Syndrome Reveal Deficits of Circadian and Sleep HomeostasisSemantic proximity Read ↗

Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.Semantic proximity Read ↗

Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.Semantic proximity Read ↗

Syndrome of the Month: An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature.Semantic proximity Read ↗

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalitiesSemantic proximity Read ↗

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

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephalySemantic proximity Read ↗

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.Semantic proximity Read ↗

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