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Article

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

American journal of human genetics - 1 Jan 2003

Douglas Jenny, Hanks Sandra, Temple I Karen, Davies Sally, Murray Alexandra, Upadhyaya Meena, Tomkins Susan, Hughes Helen E, Cole Trevor R P, Rahman Nazneen

Abstract excerpt

Sotos syndrome is a childhood overgrowth syndrome characterized by a distinctive facial appearance, height and head circumference >97th percentile, advanced bone age, and developmental delay. Weaver syndrome is characterized by the same criteria but has its own distinctive facial gestalt. Recentl...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 12464997
DOI: 10.1086/345647
PMCID: PMC378618

Genes

NSD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12464997-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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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.PMID 12464997Read ↗

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

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

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.Semantic proximity Read ↗

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.Semantic proximity Read ↗

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.Semantic proximity Read ↗

Sotos syndrome.Semantic proximity Read ↗

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.Semantic proximity Read ↗

Genetics of Sotos syndrome.Semantic proximity Read ↗

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.Semantic proximity Read ↗

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.Semantic proximity Read ↗

NSD1 mutations in Sotos syndrome.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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