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Article

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.

Genes - 22 Jan 2023

Testa Barbara, Conteduca Giuseppina, Grasso Marina, Cecconi Massimiliano, Lantieri Francesca, Baldo Chiara, Arado Alessia, Andraghetti Laura, Malacarne Michela, Milani Donatella, Coviello Domenico, Sotos Collaborative Group

Abstract excerpt

Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the NSD1 (nuclear receptor binding SET domain containing protein 1) gene. No clinical diagnostic consensus criteria are published yet, and molecular analysis reduces the clinical diagnostic uncertainty. We screened 1530 unrelated patients enrolled from 2003 to 2021 at Galliera Hospital and Gaslini Institute in Genoa. NSD1 variants were...

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Identifiers

PMID: 36833222
DOI: 10.3390/genes14020295
PMCID: PMC9956575

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