Oral Virtual Presentation (Virtual only) ESA-SRB-ANZBMS 2021

Functional genomics for the discovery and characterisation of genes responsible for premature ovarian insufficiency in Perrault syndrome (#213)

Elena J Tucker 1 2 , Shabnam Bakhshalizadeh 1 2 , Katrina M Bell 1 , Gorjana Robevska 1 , Jocelyn van den Bergen 1 , Sylvie Jaillard 3 4 , Daniella Hock 5 , Erica E Davis 6 7 , Farid Ullah 6 8 , Katie Ayers 1 2 , Rajini Sreenivasan 1 2 , Gary Hime 9 , David Stroud 5 , David R Thorburn 1 2 , John Christodoulou 1 2 10 , Philippe Touraine 11 , Andrew H Sinclair 1 2
  1. MCRI, Parville, VIC, Australia
  2. Department of Paediatrics, University of Melbourne , Parkville, VIC
  3. CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, Rennes, France
  4. Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de recherche en santé, environnement et travail), Rennes, France
  5. Bio21 Molecular Science & Biotechnology Institute, Parkville, Australia
  6. Stanley Manne Children’s Research Institute, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, USA
  7. Department of Pediatrics; Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, USA
  8. National Institute for Biotechnology and Genetic Engineering (NIBGE-C), Faisalabad; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan
  9. Department of Anatomy and Physiology, University of Melbourne, Parkville, VIC, Australia
  10. Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia
  11. Department of Endocrinology and Reproductive Medicine, INSERM, Paris, France

Premature ovarian insufficiency (POI), affecting as many as 1 in 100 women, is characterised by menstrual disturbance and elevated follicle stimulating hormone before the age of 40. The condition is highly heterogeneous with over 50 causative genes but these genes only account for ~25% of patients. POI can be associated with significant co-morbidity depending on the underlying genetic pathology. For example, POI is associated with sensorineural hearing loss in individuals with Perrault syndrome. We have used functional genomics to investigate the genetic cause of POI in a large cohort of patients, including ten cases of Perrault syndrome from seven different families. We identified novel causative variants in known Perrault syndrome genes as well as causative variants in TFAM, GGPS1, PEX6 and MRPL50, not previously associated with POI or Perrault syndrome. The role of these genes in ovarian pathology has been consolidated by the identification of additional affected families and/or functional assays in patient fibroblasts or animal models. Most identified genes responsible for Perrault syndrome have a role in mitochondrial translation or peroxisomal biogenesis/function. This highlights the need to consider ovarian function in individuals with atypical/mild mitochondrial and/or peroxisomal disorders. In one family, the affected patient presented only with POI, but genomics revealed causative variants in a Perrault syndrome gene. This demonstrates the utility of using genomics for the investigation and management of POI because co-morbidity can be predicted and the appropriate healthcare team assembled. In this case an audiologist was recruited for optimal patient management. Our genomic study highlights the diverse molecular landscape of POI and Perrault syndrome, and demonstrates the pivotal role mitochondria and peroxisomes play in ovarian function. ­­