Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects

• Published in: Scientific reports Vol. 13; no. 1; p. 12584
• Main Authors: Lee, Sang-Yeon, Kim, Min Young, Han, Jin Hee, Park, Sang Soo, Yun, Yejin, Jee, Seung-Cheol, Han, Jae Joon, Lee, Jun Ho, Seok, Heeyoung, Choi, Byung Yoon
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 03.08.2023; Nature Publishing Group; Nature Portfolio
• Subjects: 631/208; 692/1807; 692/308; 692/4017; Cochlea; Deafness; Gene expression; Hair cells; Hearing loss; Humanities and Social Sciences; Inner ear; Localization; Lymphoblastoid cell lines; Molecular modelling; multidisciplinary; Mutants; Proteins; Science; Science (multidisciplinary); Transcription factors; Transcriptomes

POU4F3 , a member of the POU family of transcription factors, commonly causes autosomal dominant deafness. Exome sequencing was used to identify four novel variants in POU4F3 (NM_002700.2), including c.564dupA: p.Ala189SerfsTer26, c.743T > C:p.Leu248Pro, c.879C > A:p.Phe293Leu, and c.952G >...