Familial gigantism caused by an NSD1 mutation

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, ma...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2005-11, Vol.139A (1), p.40-44
Main Authors: 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.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Child
Craniofacial Abnormalities - genetics
DNA Mutational Analysis
familial overgrowth
Female
Gigantism - genetics
Histone Methyltransferases
Histone-Lysine N-Methyltransferase
Humans
Intracellular Signaling Peptides and Proteins - genetics
Male
Mutation
normal development
NSD1 haploinsufficiency
Nuclear Proteins - genetics
Pedigree
Syndrome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. © 2005 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30973