Beckwith Wiedemann syndrome (BWS) and Birt-Hogg-Dube syndrome (BHD) are two examples of genetic conditions that are associated with an increased risk of renal neoplasia (Wilms tumour and renal cell carcinoma (RCC) respectively). BWS is a model imprinting disorder characterised by overgrowth, developmental defects, predisposition to embryonal tumours and results from disordered expression of imprinted genes on chromosome 11p15.5. There is an association between the use of assisted reproductive technologies (ART) and BWS. BHD is an autosomal dominantly inherited condition characterised by cutaneous fibrofolliculomas, lung cysts predisposing to spontaneous pneumothorax and an increased lifetime risk of RCC and is caused by germline mutations in the FLCN gene. Both BWS and BHD show phenotypic variation in their manifestation. The clinical and molecular genetic investigations described in this thesis aimed to uncover factors influencing variation in phenotypic expression in these two conditions. Conclusions: Phenotypic variation in BWS can result from locus heterogeneity, epigenetic and environmental modifiers. Phenotypic variation in BHD may reflect allelic heterogeneity and the presence of genetic modifiers.
| Identifer | oai:union.ndltd.org:bl.uk/oai:ethos.bl.uk:731947 |
| Date | January 2018 |
| Creators | Lim, Derek Hock Kiat |
| Publisher | University of Birmingham |
| Source Sets | Ethos UK |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Source | http://etheses.bham.ac.uk//id/eprint/7978/ |
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