Family misfortune caused by hereditary bias: a reflection on mitochondrial disease diagnosis in a family.

Abstract

Aim: Assisted reproductive technology (ART) is an invaluable strategy for preventing the inheritance of genetic disorders and promoting the birth of healthy children. Nevertheless, the general public's limited understanding of genetics and low awareness of available services obstruct effective utilization of genetic counseling. Our analysis of a family affected by mitochondrial genetic disease aims to improve public understanding of genetic knowledge and the importance of genetic counseling.

Methods: We gathered comprehensive data on a family with mitochondrial disease and scrutinized the genetic sequencing and diagnostic procedures used to identify mitochondrial disease within the family.

Results: In a case involving a family with two daughters, both began to exhibit symptoms such as abnormal gait, myodystonia, and excessive fatigue at the age of 4. These symptoms were incorrectly assumed to be paternally inherited, as the mother believed the father had a mild intellectual disability. As a result, the family opted for ART, specifically in vitro fertilization (IVF) with donor sperm, without thorough genetic counseling or a conclusive diagnosis for the children. Despite these precautions, the son born from IVF presented with symptoms mirroring his sisters' at the age of 6, including typical MRI abnormal signals in the bilateral basal ganglia. Furthermore, the eldest daughter's naturally conceived child also started to show identical symptoms by the age of 3. Subsequent genetic testing revealed a homoplasmic pathogenic mutation in the MT-ND6 gene (m.14459G>A), confirming that the dystonia was maternally inherited, with the mother exhibiting an 89.2% heteroplasmic variation in the same gene.

Conclusions: This case study demonstrates the significant consequences of a lack of genetic knowledge and prevailing misconceptions when applying ART. It underscores the urgent need to bolster genetic literacy and emphasizes the vital importance of informed decision-making within genetic healthcare services.