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Publication year
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.
Resource type
Authors/contributors
- Zechner, Ulrich (Author)
- Kohlschmidt, Nicolai (Author)
- Kempf, Olga (Author)
- Gebauer, Konstanze (Author)
- Haug, Karsten (Author)
- Engels, Hartmut (Author)
- Haaf, Thomas (Author)
- Bartsch, Oliver (Author)
Title
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.
Abstract
We report a familial Sotos syndrome in two children, boy and girl, aged 17 and 8 years, and in their 44 year old mother, who displayed normal intelligence at adult age, but suffered from insulin dependent diabetes mellitus, bronchial asthma, and severe lipedema. The underlying missense mutation, C2175S, occurred in a conserved segment of the NSD1 gene. Our findings confirm that familial cases of SS are more likely to carry missense mutations. This case report may prove useful to avoid underestimation of the recurrence rate of SS, and to demonstrate that the developmental delay may normalize, enabling an independent life and having an own family.
Publication
European journal of medical genetics
Volume
52
Issue
5
Pages
306-310
Date
2009 Sep-Oct
Journal Abbr
Eur J Med Genet
Language
eng
ISSN
1878-0849 1769-7212
Extra
Place: Netherlands
Citation
Zechner, U., Kohlschmidt, N., Kempf, O., Gebauer, K., Haug, K., Engels, H., Haaf, T., & Bartsch, O. (2009). Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema. European Journal of Medical Genetics, 52(5), 306–310. https://doi.org/10.1016/j.ejmg.2009.06.001
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