Lay summary
This summer studentship project investigates an uncommon type of microcephalic primordial dwarfism known as Meier-Gorlin syndrome. Clinically, this syndrome expresses distinct facial features, short stature, reduced head size and many other phenotypical symptoms. Genes associated with this autosomal recessive condition are involved in DNA replication. This is a very significant cellular process that ensures sufficient production of two identical DNA copies. We have found variants within a critical gene known as DONSON that cause MGS. This protein functions within replication to ensure that stability is maintained throughout the process's progression. We hypothesise that these DONSON variants are affecting the way the protein typically functions. Thus, we are eager to investigate the protein-protein interactions through a range of precipitation and identification techniques. This will allow us to determine how these DONSON variants cause Meier-Gorlin and other microcephalic, short stature, limb abnormalities syndromes.