The importance of genetic analysis for hearing loss (HL) in the personalized medicine

Hearing loss (HL) is one of the most common sensory disorders. Despite of environmental causes, genetics plays a major role for HL, especially for children. Due to the enormous clinical and genetic heterogeneity of HL, a complex diagnostic approach is necessary for understanding the underlying pathogenesis in a given individual or family. Even though there is no gene therapy for HL yet, the diagnostic results have an influence on further treatment. Herein, we present as an example two cases which explore the importance of genetic diagnostic. The resulting insight ended in development of the already existing genetic consultation at our hearing center into a B-Center for rare diseases, the ZGI (Zentrum für genetische Innenohrschwerhörigkeit). Familial and case history of the HL were recorded in our hearing center and the Institute of Human Genetics, followed by the DNA analysis using state-of-the-art NGS technologies. The results were interdisciplinary discussed and communicated to the patients. This procedure was optimized in the ZGI. Our first case was initially supposed to have a CMV associated HL without familiar HL, but we discovered a pathogenic variant in TMC1. The second case was a familial HL with brachio-otic symptoms. The detected pathogenic variant in EYA1 in this family is known to be associated with brachio-oto-renal syndrome, which requires further medical care for these patients. On general, as well as in the ZGI, the estimated solve rate of genetic HL is around 50%, which could be increased with technical progress and knowledge. These cases demonstrate the importance of a good collaboration between clinician and geneticists. The aim of the ZGI is to improve this interaction in order to support mental, physical, and clinical patient care.

 

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Artikel online veröffentlicht:
19. April 2024