How is Sotos syndrome inherited?
In 95% of people Sotos syndrome is de novo or brand new in that person. This means that the individual with Sotos syndrome did not inherit it from a parent. In these cases, there is a low chance (less than 1%) to have another child with Sotos syndrome.
Once an individual has been diagnosed with Sotos syndrome, it is usually inherited in an autosomal dominant pattern. This means that there is a 50% risk to pass the gene change on to their children.
About 5% of individuals with Sotos syndrome have a parent who is also diagnosed with Sotos syndrome or a parent who has a ‘balanced translocation’. A balanced translocation means that a parent has all of the genetic information they need, but that the information is in a different place than expected. If a parent has a balanced chromosome translocation there is an increased chance to pass on unbalanced genetic information to their children.
- Tatton-Brown K., Cole T., Rahman N. Sotos Syndrome. 2004 Dec 17 [Updated 2015 Nov 19]. http://www.ncbi.nlm.nih.gov/books/NBK1479/
- Baujat, G., & Cormier-Daire, V. (2007). Sotos syndrome. Orphanet J Rare Dis, 2(36), 2-36. (http://www.biomedcentral.com/content/pdf/1750-1172-2-36.pdf)
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What does it mean to have inherited a “variant” in the gene for Sotos syndrome?
Changes in NSD1 are specific to a diagnosis of Sotos syndrome. Individuals may show different symptoms and have different medical complications.
There have been a few families known to having change in NSD1 who do not have all of the features of Sotos syndrome. One family had overgrowth, including head size and tall height, but did not have learning disabilities or delays.
Another family had an inherited change in NSD1 and had a diagnosis of Nevo syndrome. Nevo syndrome also shows excessive overgrowth and delayed development. However, they also have loose joints and other joint and bone abnormalities.
- Kanemoto N., Kanemoto K., Nishimura G., et al. Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome? Am J Med Genet A. 2006;140:70–3. (http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30776/abstract?userIsAuthenticated=false&deniedAccessCustomisedMessage=)
- Van Haelst M., Hoogeboom J., Baujat G., et al. Familial gigantism caused by an NSD1 mutation. Am J Med Genet A. 2005;139:40–4. (http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30973/abstract?userIsAuthenticated=false&deniedAccessCustomisedMessage=)