NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

@article{Douglas2003NSD1MA,
  title={NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.},
  author={J. B. Douglas and Sandra Hanks and Isabel Karen Temple and Sally Davies and Alexandra Murray and Meena Upadhyaya and Susan E Tomkins and Helen M Hughes and Trevor R. P. Cole and Nazneen Rahman},
  journal={American journal of human genetics},
  year={2003},
  volume={72 1},
  pages={132-43}
}
Sotos syndrome is a childhood overgrowth syndrome characterized by a distinctive facial appearance, height and head circumference >97th percentile, advanced bone age, and developmental delay. Weaver syndrome is characterized by the same criteria but has its own distinctive facial gestalt. Recently, a 2.2-Mb chromosome 5q35 microdeletion, encompassing NSD1, was reported as the major cause of Sotos syndrome, with intragenic NSD1 mutations identified in a minority of cases. We evaluated 75… CONTINUE READING

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