Identyfikacja molekularnej przyczyny epizodycznie postępującego niedosłuchu u pacjentki z poszerzonym wodociągiem przedsionka i dysplazją środkowo-szczytowych odcinków ślimaka

It is believed that several hundred products of different genes are involved in the process of sound perception, and pathogenic variants in every one of them can be responsible for hearing loss. Thus, hearing loss presents itself as a genetically highly differentiated disorder, and in many cases it is a challenge to establish its cause. Introduction of next generation sequencing made it possible to perform multigene analyzes to detect the genetic background of hearing loss. The aim of the study was to identify the molecular basis of episodic progressive hearing loss in a patient with an enlarged vestibular aqueduct and dysplasia of the central-peak sections of the cochlea. The patient underwent whole exome sequencing and two causative variants were identified in the SLC26A4 gene, thereby identifying the molecular cause of the described symptoms and signs.