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Article

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.

Journal of medical genetics - 1 Apr 2005

Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer G B, Splitt M, Temple I K, Waggoner D, Weaver D D, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N

Abstract excerpt

BACKGROUND: Sotos syndrome is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions at 5q35.3, encompassing NSD1, are responsible for approximately 10% of non-Japanese cases of Sotos. In contrast, a recurrent approximately 2 Mb microdeletion has been reported as responsible for approximately 50% of Japanese cases of Sotos. METHODS: We screened 471 cases for NSD1...

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Source

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Identifiers

PMID: 15805156
DOI: 10.1136/jmg.2004.027755
PMCID: PMC1736029

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.

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Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.PMID 15805156Read ↗

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