Oral Presentation ESA-SRB-APEG-NZSE 2022

Meier-Gorlin syndrome and primordial dwarfism (#187)

Louise Bicknell 1
  1. University of Otago, Dunedin, OTAGO, New Zealand

Primordial dwarfism is an umbrella term for a number of genetic conditions - all defined by extreme growth restriction, where both height and head size are reduced, normally in proportion. The genetics of these conditions continues to be unravelled. They are generally recessive and impact several essential functions in the cell required for growth and proliferation, including the centrosome and mitosis, DNA damage and repair, splicing, and DNA replication. My research has identified the majority of genes linked to Meier-Gorlin syndrome, a primordial dwarfism where affected individuals also have defining characteristics of microtia and patellae a/hypoplasia. The clinical and genetics of these conditions will be discussed, along with our latest research in harnessing this genetic power to study more common conditions.