BMC Med Genomics 2022 03 6;15(1):49. Epub 2022 Mar 6.
Department of Otorhinolaryngology Head and Neck Surgery, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, No. 20 East, Yuhuangding Road, Yantai, 264000, Shandong, People's Republic of China.
Background: The enlarged vestibular aqueduct (EVA), associated with mutations in the SLC26A4 gene, characterized by non-syndromic hearing loss, is an autosomal recessive disorder. Here, we intended to investigate genetic causes of hearing loss in a Han Chinese man.
Method: First, whole-exome sequencing was performed to identify the gene mutations responsible for hearing loss in the proband. Read More