Haploinsufficiency of NSD1 causes Sotos syndrome
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- 18 March 2002
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 30 (4) , 365-366
- https://doi.org/10.1038/ng863
Abstract
We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 submicroscopic deletion mutations of NSD1 among 42 individuals with sporadic cases of Sotos syndrome. The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.Keywords
This publication has 10 references indexed in Scilit:
- Molecular characterization of NSD1, a human homologue of the mouse Nsd1 geneGene, 2001
- Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)American Journal of Medical Genetics, 2001
- The PWWP domain: a potential protein–protein interaction domain in nuclear proteins influencing differentiation?FEBS Letters, 2000
- The syndromes of Sotos and Weaver: Reports and reviewAmerican Journal of Medical Genetics, 1998
- Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivatorsThe EMBO Journal, 1998
- SET domain proteins modulate chromatin domains in eu- and heterochromatinCellular and Molecular Life Sciences, 1998
- The PHD finger: Implications for chromatin-mediated transcriptional regulationTrends in Biochemical Sciences, 1995
- Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristicsAmerican Journal of Medical Genetics, 1985
- Sotos syndrome in two brothersClinical Genetics, 1980
- Letter: Cerebral gigantism.Journal of Medical Genetics, 1976