Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders

BMC Medical Genomics

Mathieu Bélanger¹  Sarah Belbraouet¹  Claude Bhérer²  Nicolas Crapoulet³  Philippe Pierre Robichaud³  Eric P. Allain³  Mouna Ben Amor³  Jason Harquail⁴  Jean Mamelona⁴  Stéphanie Crapoulet⁴ 

[1] Centre de formation médicale du Nouveau-Brunswick;Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University;Department of Medical Genetics, Vitalité Health Network, Dr. Georges-L.-Dumont University Hospital Centre;Research and Scientific Development, Vitalité Health Network;

关键词: Acadians;    Carrier screening;    Founder population;    Inherited disease;   

DOI  :  10.1186/s12920-022-01249-1

来源: DOAJ

【 摘 要 】

Abstract Background Founder populations that have recently undergone important genetic bottlenecks such as French-Canadians and Ashkenazi Jews can harbor some pathogenic variants at a higher carrier rate than the general population, putting them at a higher risk for certain genetic diseases. In these populations, there can be considerable benefit to performing ethnic-based or expanded preconception carrier screening, which can help in the prevention or early diagnosis and management of some genetic diseases. Acadians are descendants of French immigrants who settled in the Atlantic Coast of Canada in the seventeenth century. Yet, the Acadian population has never been investigated for the prevalence/frequency of disease-causing genetic variants. Methods An exome sequencing panel for 312 autosomal recessive and 30 X-linked diseases was designed and specimens from 60 healthy participants were sequenced to assess carrier frequency for the targeted diseases. Results In this study, we show that a sample population of Acadians in South-East New Brunswick harbor variants for 28 autosomal recessive and 1 X-linked diseases, some of which are significantly more frequent in comparison to reference populations. Conclusion Results from this pilot study suggests a need for further investigation of genomic variation in this population and possibly implementation of targeted carrier and neonatal screening programs.

【 授权许可】

Unknown