From NSD1 to Sotos syndrome : a genetic and functional analysis

Author(s):
Visser, R.
Published
2011
Publication type
Doctoral Thesis

Abstract

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.

CongenitalGeneticsMAPKMicroarrayNSD1OvergrowthSotos syndrome
Defense date
2011-05-26
Language
English
Supervisor(s)
Wit, J.M.
Advisor(s)
Karperien, H.B.J.; Kant, S.G.
Qualification
Ph.D.
Degree granting institution
Leiden University Medical Center (LUMC), Leiden University, Leiden
hdl
1887/17673

Funding

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”).