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Article

Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.

Chinese medical journal - 20 Sept 2005

Tong Tony M F, Hau Edgar W L, Lo Ivan F M, Chan Daniel H C, Lam Stephen T S

Abstract excerpt

BACKGROUND: Sotos syndrome is an overgrowth syndrome with characteristic facial gestalt and mental retardation of variable severity. Haploinsufficiency of the NSD1 gene has been implicated as the major cause of Sotos syndrome, with a predominance of microdeletions reported in Japanese patients. This study was conducted to investigate into the spectrum of NSD1 gene mutations in southern Chinese patients with Sotos...

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Source

Identifiers

PMID: 16232326

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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Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.PMID 16232326Read ↗

NSD1 mutations in Sotos syndrome.Semantic proximity Read ↗

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

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

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Molecular basis of Sotos syndrome.Semantic proximity Read ↗

First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.Semantic proximity Read ↗

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 ↗

A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review.Semantic proximity Read ↗

Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the NSD1 Gene and Literature Analysis in the Chinese Han Population.Semantic proximity Read ↗

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