Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss
Copyright © 2020 Tian-Yi Cui et al.
| Veröffentlicht in: | Neural plasticity. - 1998. - 2020(2020) vom: 09., Seite 6137083 |
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| Weitere Verfasser: | , , , , , , , , |
| Format: | Online-Aufsatz |
| Sprache: | English |
| Veröffentlicht: |
2020
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| Zugriff auf das übergeordnete Werk: | Neural plasticity |
| Schlagworte: | Journal Article Research Support, Non-U.S. Gov't Homeodomain Proteins POU4F3 protein, human Transcription Factor Brn-3C |
| Zusammenfassung: | Copyright © 2020 Tian-Yi Cui et al. Hereditary hearing loss is one of the most common sensory disabilities worldwide. Mutation of POU domain class 4 transcription factor 3 (POU4F3) is considered the pathogenic cause of autosomal dominant nonsyndromic hearing loss (ADNSHL), designated as autosomal dominant nonsyndromic deafness 15. In this study, four novel variants in POU4F3, c.696G>T (p.Glu232Asp), c.325C>T (p.His109Tyr), c.635T>C (p.Leu212Pro), and c.183delG (p.Ala62Argfs∗22), were identified in four different Chinese families with ADNSHL by targeted next-generation sequencing and Sanger sequencing. Based on the American College of Medical Genetics and Genomics guidelines, c.183delG (p.Ala62Argfs∗22) is classified as a pathogenic variant, c.696G>T (p.Glu232Asp) and c.635T>C (p.Leu212Pro) are classified as likely pathogenic variants, and c.325C>T (p.His109Tyr) is classified as a variant of uncertain significance. Based on previous reports and the results of this study, we speculated that POU4F3 pathogenic variants are significant contributors to ADNSHL in the East Asian population. Therefore, screening of POU4F3 should be a routine examination for the diagnosis of hereditary hearing loss |
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| Beschreibung: | Date Completed 30.06.2021 Date Revised 30.06.2021 published: Electronic-eCollection Citation Status MEDLINE |
| ISSN: | 1687-5443 |
| DOI: | 10.1155/2020/6137083 |