Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema
| Autor: | Konstanze Gebauer, Hartmut Engels, Thomas Haaf, Nicolai Kohlschmidt, Oliver Bartsch, Karsten Haug, Ulrich Zechner, Olga Kempf |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male medicine.medical_specialty Pediatrics Adolescent Lipid Metabolism Disorders Mutation Missense Germany Internal medicine Immunopathology Genetics Humans Medicine Missense mutation Growth Disorders Genetics (clinical) Asthma Autoimmune disease Type 1 diabetes business.industry Sotos syndrome Respiratory disease Intracellular Signaling Peptides and Proteins Lipoedema Nuclear Proteins Histone-Lysine N-Methyltransferase Syndrome General Medicine medicine.disease Diabetes Mellitus Type 1 Endocrinology Histone Methyltransferases Female business |
| Zdroj: | European Journal of Medical Genetics. 52:306-310 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2009.06.001 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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