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Familial gigantism caused by an NSD1 mutation.

Authors: Van Haelst, MM  Hoogeboom, JJ  Baujat, G  Bruggenwirth, HT  Van de Laar, I  Coleman, K  Rahman, N  Niermeijer, MF  Drop, SL  Scambler, PJ 
Citation: van Haelst MM, etal., Am J Med Genet A. 2005 Nov 15;139(1):40-4.
Pubmed: (View Article at PubMed) PMID:16222665
DOI: Full-text: DOI:10.1002/ajmg.a.30973

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.


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RGD Object Information
RGD ID: 11568154
Created: 2016-12-07
Species: All species
Last Modified: 2016-12-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.