One Genetic Defect and Two Related Entities in Monozygotic Twins: Otosclerosis and Superior Semicircular Canal Near Dehiscence Syndrome

• Published in: Journal of audiology & otology Vol. 26; no. 2; pp. 97 - 102
• Main Authors: Ocal, F Ceyda Akin, Kavus, Haluk, Satar, Bulent, Pehli van, Davut
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Audiological Society and Korean Otological Society 01-04-2022
• Subjects: Case Report; Superior semicircular canal dehiscence syndrome; Exome sequencing; Genetic analysis; Hearing loss; Otosclerosis
• ISSN: 2384-1621; 2384-1710
• DOI: 10.7874/jao.2021.00381

The purpose of this study was to evaluate the clinical and genetic findings of 53-year-old monozygotic twins who had bilateral otosclerosis and right-sided superior semicircular canal near dehiscence (SSCND). Monozygotic twins at the age of 53 presented with conductive hearing loss and normal tympanic membranes. Detailed audiovestibular testing and computed tomography scan revealed that both patients had concurrent otosclerosis and SSCND. Conservative management (hearing aids) was the treatment for these patients. Exome sequencing (ES) for the twins and their affected mother identified a heterozygous missense variant in the EYA4 (c.1744G>A; p.Glu582Lys) gene. This is the first case report to present these separate entities identified in monozygotic twins with a heterozygous missense variant in the EYA4 gene. Our ES data may imply a possible causal relationship or association between variants in the EYA4 gene and concurrent otosclerosis and SSCND.