Familial gigantism caused by an NSD1 mutation.

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. -->
Grant Information: G0400188 United Kingdom MRC_ Medical Research Council
Substance Nomenclature: 0 (Intracellular Signaling Peptides and Proteins)
0 (Nuclear Proteins)
EC 2.1.1.- (Histone Methyltransferases)
EC 2.1.1.43 (Histone-Lysine N-Methyltransferase)
EC 2.1.1.43 (NSD1 protein, human)
Entry Date(s): Date Created: 20051014 Date Completed: 20060510 Latest Revision: 20220129
Update Code: 20240829
DOI: 10.1002/ajmg.a.30973
PMID: 16222665
Autor: van Haelst MM; Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, The Netherlands., Hoogeboom JJ, Baujat G, Brüggenwirth HT, Van de Laar I, Coleman K, Rahman N, Niermeijer MF, Drop SL, Scambler PJ
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2005 Nov 15; Vol. 139 (1), pp. 40-4.
DOI: 10.1002/ajmg.a.30973
Abstrakt: 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.
Databáze: MEDLINE
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