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Article

Familial gigantism caused by an NSD1 mutation.

American journal of medical genetics. Part A - 15 Nov 2005

van Haelst Mieke M, Hoogeboom Jeannette J M, Baujat Genevieve, Brüggenwirth Hennie T, Van de Laar Ingrid, Coleman Kim, Rahman Nazneen, Niermeijer Martinus F, Drop Sten L S, Scambler Peter J

Abstract excerpt

A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome. The overgrowth condition (MIM 117550) is characterized by facial anomalies, macrocephaly, advanced bone age, and learning disabilities. Manifestations in the present family include...

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Source

Identifiers

PMID: 16222665
DOI: 10.1002/ajmg.a.30973

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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Familial gigantism caused by an NSD1 mutation.PMID 16222665Read ↗

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A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.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 ↗

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

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