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A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report
The ACTG1 gene encodes the cytoskeletal protein γ-actin, which functions in non-muscle cells and is abundant in the auditory hair cells of the cochlea. Autosomal dominant missense mutations in ACTG1 are associated with DFNA20/26, a disorder that is typically characterized by post-lingual progressive...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983957/ https://www.ncbi.nlm.nih.gov/pubmed/29620237 http://dx.doi.org/10.3892/mmr.2018.8837 |
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author | Lee, Cha Gon Jang, Jahyeon Jin, Hyun-Seok |
author_facet | Lee, Cha Gon Jang, Jahyeon Jin, Hyun-Seok |
author_sort | Lee, Cha Gon |
collection | PubMed |
description | The ACTG1 gene encodes the cytoskeletal protein γ-actin, which functions in non-muscle cells and is abundant in the auditory hair cells of the cochlea. Autosomal dominant missense mutations in ACTG1 are associated with DFNA20/26, a disorder that is typically characterized by post-lingual progressive hearing loss. To date, 17 missense mutations in ACTG1 have been reported in 20 families with DFNA20/26. The present study described a small family with autosomal dominant nonsyndromic hearing loss. A novel heterozygous missense mutation, c.94C>T (p.Pro32Ser), in ACTG1 was identified using the TruSight One sequencing panel. Notably, congenital hearing loss in our proband was identified by newborn hearing screening at birth. In silico predictions of protein structure and function indicate that the p.Pro32Ser mutation may result in conformational changes in γ-actin. The present study expands the understanding of the phenotypic effects of heterozygous missense mutations in the ACTG1 gene. In specific, the present results emphasize that mutations in ACTG1 result in a diverse spectrum of onset ages, including congenital in addition to post-lingual onset. |
format | Online Article Text |
id | pubmed-5983957 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | D.A. Spandidos |
record_format | MEDLINE/PubMed |
spelling | pubmed-59839572018-06-04 A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report Lee, Cha Gon Jang, Jahyeon Jin, Hyun-Seok Mol Med Rep Articles The ACTG1 gene encodes the cytoskeletal protein γ-actin, which functions in non-muscle cells and is abundant in the auditory hair cells of the cochlea. Autosomal dominant missense mutations in ACTG1 are associated with DFNA20/26, a disorder that is typically characterized by post-lingual progressive hearing loss. To date, 17 missense mutations in ACTG1 have been reported in 20 families with DFNA20/26. The present study described a small family with autosomal dominant nonsyndromic hearing loss. A novel heterozygous missense mutation, c.94C>T (p.Pro32Ser), in ACTG1 was identified using the TruSight One sequencing panel. Notably, congenital hearing loss in our proband was identified by newborn hearing screening at birth. In silico predictions of protein structure and function indicate that the p.Pro32Ser mutation may result in conformational changes in γ-actin. The present study expands the understanding of the phenotypic effects of heterozygous missense mutations in the ACTG1 gene. In specific, the present results emphasize that mutations in ACTG1 result in a diverse spectrum of onset ages, including congenital in addition to post-lingual onset. D.A. Spandidos 2018-06 2018-03-29 /pmc/articles/PMC5983957/ /pubmed/29620237 http://dx.doi.org/10.3892/mmr.2018.8837 Text en Copyright: © Lee et al. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. |
spellingShingle | Articles Lee, Cha Gon Jang, Jahyeon Jin, Hyun-Seok A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report |
title | A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report |
title_full | A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report |
title_fullStr | A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report |
title_full_unstemmed | A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report |
title_short | A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report |
title_sort | novel missense mutation in the actg1 gene in a family with congenital autosomal dominant deafness: a case report |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983957/ https://www.ncbi.nlm.nih.gov/pubmed/29620237 http://dx.doi.org/10.3892/mmr.2018.8837 |
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