Next-Generation Sequencing - Arranged by Saudi Society of Medical Genetics and King Fahad Specialist Hospital Dammam.
Date and time
December 12th, 2019
Location: Prince Mohamed Bin Fahad Hall- Dammam
Time: 08:00 – 17:00
CME hours accreditedRead More
Mitochondrial disorders are a challenging group of human genetic conditions to diagnose due to extensive clinical heterogeneity. Mitochondria are the only cellular organelles containing their own genome and their functions are governed by both the nuclear and the maternally inherited mitochondrial genomes, thus mitochondrial disease could follow all possible modes of inheritance adding to the complexity of diagnosis. Even though the prevalence of mitochondrial disease has been studied in various parts of the world, the data regarding their prevalence in the Middle Eastern population remains limited. However, novel mitochondrial disease genes have been identified within the highly consanguineous Arab Middle East population with the help of novel genetic technologies including high throughput next-generation sequencing (NGS), leading to the identification of important founder mutations underlying several mitochondrial disorders. Furthermore, novel variants in mitochondrial disease genes help expand the spectrum of clinical phenotypes studied. The enrichment of reported phenotypes could enhance targeted gene panels leading to a rapid and precise genetic diagnosis facilitating genetic counseling. The aim of this review is to highlight the impact of NGS on mitochondrial disease diagnosis in the Middle Eastern population, particularly in identifying novel candidate genes and founder mutations.Read Full article