Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2.

ABSTRACT:

Objectives

In this review, we discuss current knowledge about the genetics and epigenetics of vestibular schwannoma (VS) in relation to hearing loss. A multistep and sequential genetic algorithm suitable for the identification of Neurofibromatosis Type 2 (NF2) constitutional and somatic mutations is discussed.

Data sources, study selection

A review was performed of the English literature from 1990 to 2019 using PubMed regarding genetics and epigenetics of vestibular schwannoma and NF2.

Conclusion

NF2 is a genetic disorder characterized by NF2 mutations that affect the function of a tumor suppressor called merlin. In particular, individuals with NF2 develop bilateral VS that can lead to hearing loss and even deafness. Recent advances in genetic and epigenetic studies h

SUBMITTER: Dinh CT 

PROVIDER: S-EPMC7547625 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature