RGD Reference Report - Familial gigantism caused by an NSD1 mutation. - Rat Genome Database
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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.
RGD ID: 11568154
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.

Annotation

Disease Annotations    
Gigantism  (IAGP,ISO)

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Nsd1  (nuclear receptor binding SET domain protein 1)

Genes (Mus musculus)
Nsd1  (nuclear receptor-binding SET-domain protein 1)

Genes (Homo sapiens)
NSD1  (nuclear receptor binding SET domain protein 1)


Additional Information