From NSD1 to Sotos syndrome : a genetic and functional analysis

Visser, R. (2011)

Doctoral Thesis

Sotos syndrome is a childhood overgrowth disorder which is characterised by an increased statural height and/or head circumference, characteristic facial dysmorphism and a variable level of learning disability. The aim of this study was to perform a comprehensive study of Sotos syndrome and it__s molecular background. Therefore, the following three yet unresolved topics were addressed: 1. The molecular basis and mechanisms of the microdeletions in Sotos syndrome. 2. The causative molecular alterations in patients with features of Sotos syndrome but without NSD1 abnormalities. 3. The signaling pathways and downstream effectors of NSD1.

• Congenital
• Genetics
• MAPK
• Microarray
• NSD1
• Overgrowth
• Sotos syndrome

• All authors: Visser, R.
• Supervisor: Wit, J.M.
• Co-supervisor: Karperien, H.B.J.; Kant, S.G.
• Qualification: Doctor (dr.)
• Awarding Institution: Leiden University Medical Center (LUMC), Leiden University
• Date: 2011-05-26
• Sponsorship: The studies presented in this thesis were financially supported by the Netherlands Organisation for Health Research and Development (ZonMW, grant 920-03-325), and by a grant from Stinafo (Stichting Nationaal Fonds “het Gehandicapte Kind”).