{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14(2)"],"submitter":["Testa B"],"funding":["Banca d’Italia","Italian Ministry of Health","Ricerca Corrente 2022 “RETE IDEA”","AssiGulliver Italian Association","Ricerca Corrente 2021"],"pubmed_abstract":["Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the <i>NSD1</i> (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. <i>NSD1</i> variants were identified in 292 patients including nine partial gene deletions, 13 microdeletions of the entire <i>NSD1</i> gene, and 115 novel intragenic variants never previously described. Thirty-two variants of uncertain significance (VUS) out of 115 identified were re-classified. Twenty-five missense <i>NSD1</i> VUS (25/32, 78.1%) changed class to likely pathogenic or likely benig"],"journal":["Genes"],"pagination":["295"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9956575"],"repository":["biostudies-literature"],"pubmed_title":["Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome."],"pmcid":["PMC9956575"],"pubmed_authors":["Andraghetti L","Conteduca G","Lantieri F","Coviello D","Sotos Collaborative Group","Malacarne M","Baldo C","Grasso M","Cecconi M","Testa B","Milani D","Arado A"],"additional_accession":[]},"is_claimable":false,"name":"Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.","description":"Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the <i>NSD1</i> (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. <i>NSD1</i> variants were identified in 292 patients including nine partial gene deletions, 13 microdeletions of the entire <i>NSD1</i> gene, and 115 novel intragenic variants never previously described. Thirty-two variants of uncertain significance (VUS) out of 115 identified were re-classified. Twenty-five missense <i>NSD1</i> VUS (25/32, 78.1%) changed class to likely pathogenic or likely benig","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2026-04-08T13:14:37.979Z","creation":"2025-04-04T11:27:18.974Z"},"accession":"S-EPMC9956575","cross_references":{"pubmed":["36833222"],"doi":["10.3390/genes14020295"]}}