Thesis Title: Investigation of a founder genetic variant in South African SUDI cases and background population
Supervisor: A/Prof Laura Heathfield

Sudden unexpected death of an infant (SUDI)is when an infant less than 1 year of age demises rapidly and the cause of death is initially not apparent. Previous studies have found that unexplained SUDI cases may be due to cardiac channelopathies, which are usually only detected if a molecular autopsy is done. The University of Cape Town has an ongoing study investigating genetic variants in SUDI cases (HREC: 445/2015). The South African founder variant, KCNQ1 c.1022C>T, is associated with a severe type of congenital long QT syndrome and was found in 26 out of 176 SUDI cases previously investigated. However, in order to interpret these data, we need to know how frequent this variant is in the background population. Currently, there is a lack of background allele frequency data for this variant for the South African population, therefore this observation cannot be interpreted objectively. As such, the primary objective of this study is to genotype the founder variant in 179 South African control individuals, with the aim of establishing background allele frequency data. The secondary objective is to confirm the presence of the variant, where applicable, using the gold-standard method of Sanger sequencing. Lastly, significance of the frequency of the founder variant in this whole cohort will be determined with statistical analysis.