A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss

• Ngā kaituhi matua: Min He (Author), Miaomiao Hu (Author), Qiang Zhang (Author), Kai Yao (Author)
• Hōputu: Pukapuka
• I whakaputaina: BMC, 2024-07-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

Abstract Background This study aims to analyze the pathogenic gene in a Chinese family with non-syndromic hearing loss and identify a novel mutation site in the TNC gene. Methods A five-generation Chinese family from Anhui Province, presenting with autosomal dominant non-syndromic hearing loss, was...