Familial gigantism caused by an NSD1 mutation

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

doi:https://doi.org/10.1002/ajmg.a.30973

Familial gigantism caused by an NSD1 mutation

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

Research output: Contribution to journal › Article › Academic › peer-review

17 Citations (Scopus)

Abstract

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 dramatically increased height, weight, and head circumference together with a long face, large mandible, and large ears, but mental deficiency was absent.

Original language	English
Pages (from-to)	40-4
Number of pages	5
Journal	American Journal of Medical Genetics Part A
Volume	139
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.30973
Publication status	Published - 15 Nov 2005

Keywords

Abnormalities, Multiple/genetics
Adolescent
Child
Craniofacial Abnormalities/genetics
DNA Mutational Analysis
Female
Gigantism/genetics
Histone Methyltransferases
Humans
Intracellular Signaling Peptides and Proteins/genetics
Male
Mutation
Nuclear Proteins/genetics
Pedigree
Syndrome

Access to Document

https://doi.org/10.1002/ajmg.a.30973

Cite this

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title = "Familial gigantism caused by an NSD1 mutation",

abstract = "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 dramatically increased height, weight, and head circumference together with a long face, large mandible, and large ears, but mental deficiency was absent.",

keywords = "Abnormalities, Multiple/genetics, Adolescent, Child, Craniofacial Abnormalities/genetics, DNA Mutational Analysis, Female, Gigantism/genetics, Histone Methyltransferases, Humans, Intracellular Signaling Peptides and Proteins/genetics, Male, Mutation, Nuclear Proteins/genetics, Pedigree, Syndrome",

author = "{van Haelst}, {Mieke M} and Hoogeboom, {Jeannette J M} and Genevieve Baujat and Br{\"u}ggenwirth, {Hennie T} and {Van de Laar}, Ingrid and Kim Coleman and Nazneen Rahman and Niermeijer, {Martinus F} and Drop, {Sten L S} and Scambler, {Peter J}",

year = "2005",

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day = "15",

doi = "https://doi.org/10.1002/ajmg.a.30973",

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journal = "American Journal of Medical Genetics Part A",

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T1 - Familial gigantism caused by an NSD1 mutation

AU - van Haelst, Mieke M

AU - Hoogeboom, Jeannette J M

AU - Baujat, Genevieve

AU - Brüggenwirth, Hennie T

AU - Van de Laar, Ingrid

AU - Coleman, Kim

AU - Rahman, Nazneen

AU - Niermeijer, Martinus F

AU - Drop, Sten L S

AU - Scambler, Peter J

PY - 2005/11/15

Y1 - 2005/11/15

N2 - 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 dramatically increased height, weight, and head circumference together with a long face, large mandible, and large ears, but mental deficiency was absent.

AB - 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 dramatically increased height, weight, and head circumference together with a long face, large mandible, and large ears, but mental deficiency was absent.

KW - Abnormalities, Multiple/genetics

KW - Adolescent

KW - Child

KW - Craniofacial Abnormalities/genetics

KW - DNA Mutational Analysis

KW - Female

KW - Gigantism/genetics

KW - Histone Methyltransferases

KW - Humans

KW - Intracellular Signaling Peptides and Proteins/genetics

KW - Male

KW - Mutation

KW - Nuclear Proteins/genetics

KW - Pedigree

KW - Syndrome

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DO - https://doi.org/10.1002/ajmg.a.30973

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