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Article

NSD1 mutations in Sotos syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Aug 2005

Faravelli Francesca

Abstract excerpt

Sotos syndrome is a genetic disorder characterized by a typical facial appearance, macrocephaly, accelerated growth, developmental delay, and a variable range of associated abnormalities. The NSD1 gene was recently found to be responsible for Sotos syndrome, and more than 150 patients with NSD1 alterations have been identified. A significant ethnic difference is found in the prevalence of different types of...

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Identifiers

PMID: 16010675
DOI: 10.1002/ajmg.c.30061

Genes

NSD1

Provenance

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Related research

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NSD1 mutations in Sotos syndrome.PMID 16010675Read ↗

Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.Semantic proximity Read ↗

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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 ↗

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

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

Genetics of 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 ↗

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 ↗

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