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Article

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

Clinical genetics - 1 May 2021

Carli Diana, Ferrero Giovanni Battista, Fusillo Anna, Coppo Paola, La Selva Roberta, Zinali Federica, Cardaropoli Simona, Ranieri Carlotta, Iacoviello Matteo, Resta Nicoletta, Mussa Alessandro

Abstract excerpt

Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant disorder caused by heterozygous germline activating pathogenic variants in mammalian target of rapamycin (MTOR) on chromosome 1p36. A few patients with disseminated mosaicism have been described so far and they seem to display a different phenotype when compared to germline cases. Here we report the sixth case with a disseminated mosaic MTOR pathogenic...

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PMID: 33506498
DOI: 10.1111/cge.13931

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