A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family

• Main Authors: Ting Wu (Author), Limei Cui (Author), Yakui Mou (Author), Wentao Guo (Author), Dawei Liu (Author), Jingjing Qiu (Author), Cong Xu (Author), Jiamin Zhou (Author), Fengchan Han (Author), Yan Sun (Author)
• Format: Book
• Published: BMC, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...