Familial Sotos Syndrome Caused by a Novel Missense Mutation

Familial Sotos Syndrome Caused by a Novel Missense Mutation, C2175S, in NSD1 and Associated with Normal Intelligence, Insulin Dependent Diabetes, Bronchial Asthma, and Lipedema

Zechner U, Kohlschmidt N, Kempf O, Gebauer K, Haug K, Engels H, Haaf T, Bartsch O; 2009

Synopsis: This paper presents a case report where a rare genetic disorder called Familial Sotos syndrome is associated with insulin-dependent diabetes, bronchial asthma, and severe 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.

Keywords: Sotos syndrome, lipedema, lipoedema, vertical transmission, NSD1 mutation, insulin dependent diabetes mellitus

PubMed Link: http://www.ncbi.nlm.nih.gov/pubmed/19545651
Other Link: http://www.researchgate.net/profile/Hartmut_Engels/publication/26310242_Familial_Sotos_syndrome_caused_by_a_novel_missense_mutation_C2175S_in_NSD1_and_associated_with_normal_intelligence_insulin_dependent_diabetes_bronchial_asthma_and_lipedema/links/53ff0cfd0cf23bb019bec788.pdf

APA Citation: Zechner, U., Kohlschmidt, N., Kempf, O., Gebauer, K., Haug, K., & Engels, H. et al. (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. http://dx.doi.org/10.1016/j.ejmg.2009.06.001

AMA Citation: Zechner U, Kohlschmidt N, Kempf O et al. 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. 2009;52(5):306-310. doi:10.1016/j.ejmg.2009.06.001.