Hereditary hearing loss: a complex genetic puzzle! This review synthesizes current knowledge on the molecular genetics of hereditary isolated hearing loss, a condition with high genetic heterogeneity. Researchers predict that over 100 genes can cause this disorder in humans, with sixty loci reported and 24 genes underlying 28 deafness forms identified to date. The paper adopts a presentation based on the primary site of the defect: hair cell defects, nonsensory cell defects, and tectorial membrane anomalies. It characterizes the encoded proteins and associated defective biological processes. These deafness forms generally appear as monogenic disorders and are rare, except for mutations in the *GJB2* gene encoding connexin26. The current epistemic understanding of these various deafness forms is still preliminary. These mutations account for a substantial portion of prelingual inherited deafness in Caucasian populations. The review provides a comprehensive overview of the genetic landscape of hearing loss, highlighting the need for continued research to unravel the intricate mechanisms underlying this complex disorder.
Published in the Annual Review of Genetics, this paper fits perfectly within the journal's scope of providing comprehensive overviews of significant topics in genetics. By summarizing the current state of knowledge on the molecular genetics of hearing loss, the review offers valuable insights and context to researchers in the field.
| Category | Category Repetition |
|---|---|
| Science: Biology (General): Genetics | 69 |
| Medicine: Medicine (General) | 61 |
| Science: Biology (General) | 52 |
| Medicine: Otorhinolaryngology | 36 |
| Science: Chemistry: Organic chemistry: Biochemistry | 29 |