Genetics of Sotos syndrome.
OBJECTIVE
Sotos syndrome (SoS) (OMIM #117550) is a childhood overgrowth syndrome characterized by excessive growth, distinctive craniofacial features, developmental delay, and advanced bone age. Recently, haploinsufficiency of the NSD1 gene has been identified as the major cause of SoS, with intragenic mutations or submicroscopic microdeletions being found in about 60 to 75% of clinically diagnosed patients with SoS.


RESULTS
Recent reports provided much information about the genetic background of SoS, the NSD gene family, and genotype-phenotype correlation. They also added new perspectives in the discussion about a possible association between SoS and neoplasia.


CONCLUSIONS
This review focuses on recent genetic developments in SoS. Clinical features and associated anomalies are reviewed in relation to possible functional roles of NSD1. Genotype-phenotype correlation between patients with SoS harboring either intragenic mutations or microdeletions is discussed as well as their implication for possible revision of the diagnostic criteria of SoS. Furthermore, future prospects in genetic research of SoS are presented.
Visser
Remco
R
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Matsumoto
Naomichi
N
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D005838:Genotype; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics*; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human