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NSD1 and Sotos Syndrome 

NSD1 and Sotos Syndrome
Chapter:
NSD1 and Sotos Syndrome
Author(s):

Remco Visser

and Naomichi Matsumoto

DOI:
10.1093/med/9780199934522.003.0152
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date: 07 March 2021

Sotos syndrome (OMIM 117550) is a childhood overgrowth syndrome characterized by accelerated growth, typical craniofacial features, and a certain level of learning impairment. Sotos syndrome is caused by haploinsufficiency of the Nuclear Receptor binding SET Domain protein 1 (NSD1) gene at 5q35.2-q35.3. Genetic analysis has established insight into the spectrum of genomic abnormalities of NSD1, in the underlying mechanisms of NSD1 microdeletions and in the genotype-phenotype correlations in Sotos syndrome. Recently, the functional roles of NSD1 have also been investigated in several studies. A major role of NSD1 lies in the transcriptional regulation of chromatin through the histone methyltransferase activity of its Su(var) 3-9, Enhancer of zeste, Trithorax (SET) domain. Identification of the molecular signaling cascades linking NSD1 mutations and Sotos syndrome phenotypic characteristics remain a challenge.

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