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Article

Genetics of Sotos syndrome.

Current opinion in pediatrics - 1 Dec 2003

Visser Remco, Matsumoto Naomichi

Abstract excerpt

PURPOSE OF REVIEW: Sotos syndrome (SoS) (OMIM #117550) is a childhood overgrowth syndrome characterized by excessive growth, distinctive craniofacial features, developmental delay, and advanced bone age. Recently, haploinsufficiency of the NSD1 gene has been identified as the major cause of SoS, with intragenic mutations or submicroscopic microdeletions being found in about 60 to 75% of clinically diagnosed...

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Source

Identifiers

PMID: 14631206
DOI: 10.1097/00008480-200312000-00010

Genes

NSD1

Provenance

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.

Related research

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Genetics of Sotos syndrome.PMID 14631206Read ↗

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.Semantic proximity Read ↗

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NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.Semantic proximity Read ↗

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.Semantic proximity Read ↗

Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome.Semantic proximity Read ↗

Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.Semantic proximity Read ↗

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.Semantic proximity Read ↗

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