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A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report

  • Authors:
    • Cha Gon Lee
    • Jahyeon Jang
    • Hyun‑Seok Jin
  • View Affiliations / Copyright

    Affiliations: Division of Child Neurology, Department of Pediatrics, Nowon Eulji Medical Center, Eulji University, Seoul 01830, Republic of Korea, Green Cross Genome, Yongin, Gyeonggi 16924, Republic of Korea, Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University, Asan, Chungcheongnam 31499, Republic of Korea
    Copyright: © Lee et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 7611-7617
    |
    Published online on: March 29, 2018
       https://doi.org/10.3892/mmr.2018.8837
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Abstract

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.
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1 

Smith RJH, Shearer AE, Hildebrand MS and Van Camp G: Deafness and hereditary hearing loss overviewGeneReviews. Pagon RA, Adam MP, Ardinger HH, et al: University of Washington; Seattle: 1993–2016

2 

Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ and Friderici KH: Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am J Hum Genet. 73:1082–1091. 2003. View Article : Google Scholar : PubMed/NCBI

3 

van Wijk E, Krieger E, Kemperman MH, De Leenheer EM, Huygen PL, Cremers CW, Cremers FP and Kremer H: A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). J Med Genet. 40:879–884. 2003. View Article : Google Scholar : PubMed/NCBI

4 

Morín M, Bryan KE, Mayo-Merino F, Goodyear R, Mencía A, Modamio-Høybjør S, del Castillo I, Cabalka JM, Richardson G, Moreno F, et al: In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. Hum Mol Genet. 18:3075–3089. 2009. View Article : Google Scholar : PubMed/NCBI

5 

Yuan Y, Gao X, Huang B, Lu J, Wang G, Lin X, Qu Y and Dai P: Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation. BMC Genet. 17:332016. View Article : Google Scholar : PubMed/NCBI

6 

Bryan KE, Wen KK, Zhu M, Rendtorff ND, Feldkamp M, Tranebjaerg L, Friderici KH and Rubenstein PA: Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function. J Biol Chem. 281:20129–20139. 2006. View Article : Google Scholar : PubMed/NCBI

7 

Miyagawa M, Nishio SY, Ichinose A, Iwasaki S, Murata T, Kitajiri S and Usami S: Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing. Ann Otol Rhinol Laryngol. 124 Suppl 1:84S–93S. 2015. View Article : Google Scholar : PubMed/NCBI

8 

Liu P, Li H, Ren X, Mao H, Zhu Q, Zhu Z, Yang R, Yuan W, Liu J, Wang Q and Liu M: Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a chinese family. J Genet Genomics. 35:553–558. 2008. View Article : Google Scholar : PubMed/NCBI

9 

Baek JI, Oh SK, Kim DB, Choi SY, Kim UK, Lee KY and Lee SH: Targeted massive parallel sequencing: The effective detection of novel causative mutations associated with hearing loss in small families. Orphanet J Rare Dis. 7:602012. View Article : Google Scholar : PubMed/NCBI

10 

Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K and Matsunaga T: Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: A cross-sectional, multi-center next-generation sequencing study. Orphanet J Rare Dis. 8:1722013. View Article : Google Scholar : PubMed/NCBI

11 

Miyagawa M, Nishio SY, Ikeda T, Fukushima K and Usami S: Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS. PLoS One. 8:e757932013. View Article : Google Scholar : PubMed/NCBI

12 

Park G, Gim J, Kim AR, Han KH, Kim HS, Oh SH, Park T, Park WY and Choi BY: Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family. BMC Genomics. 14:1912013. View Article : Google Scholar : PubMed/NCBI

13 

Vona B, Müller T, Nanda I, Neuner C, Hofrichter MA, Schröder J, Bartsch O, Läßig A, Keilmann A, Schraven S, et al: Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations. Genet Med. 16:945–953. 2014. View Article : Google Scholar : PubMed/NCBI

14 

Verloes A, Drunat S, Pilz D and Di Donato N: Baraitser-Winter cerebrofrontofacial syndromeGeneReviews. Pagon RA, Adam MP, Ardinger HH, et al: University of Washington; Seattle: 1993–2016

15 

Rendtorff ND, Zhu M, Fagerheim T, Antal TL, Jones M, Teslovich TM, Gillanders EM, Barmada M, Teig E, Trent JM, et al: A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. Eur J Hum Genet. 14:1097–1105. 2006. View Article : Google Scholar : PubMed/NCBI

16 

Di Donato N, Kuechler A, Velgano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, et al: Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Am J Med Genet A. 170:2644–2651. 2016. View Article : Google Scholar : PubMed/NCBI

17 

Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, et al: De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 44:440–444. 2012. View Article : Google Scholar : PubMed/NCBI

18 

Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, et al: Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases. Eur J Hum Genet. 23:292–301. 2015. View Article : Google Scholar : PubMed/NCBI

19 

Poirier K, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, et al: Rare ACTG1 variants in fetal microlissencephaly. Eur J Med Genet. 58:416–418. 2015. View Article : Google Scholar : PubMed/NCBI

20 

Human Gene Mutation Database Professional. version 2017.1. http://www.hgmd.cf.ac.uk

21 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 17:405–424. 2015. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Lee C, Jang J and Jin HS: A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report. Mol Med Rep 17: 7611-7617, 2018.
APA
Lee, C., Jang, J., & Jin, H. (2018). A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report. Molecular Medicine Reports, 17, 7611-7617. https://doi.org/10.3892/mmr.2018.8837
MLA
Lee, C., Jang, J., Jin, H."A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report". Molecular Medicine Reports 17.6 (2018): 7611-7617.
Chicago
Lee, C., Jang, J., Jin, H."A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report". Molecular Medicine Reports 17, no. 6 (2018): 7611-7617. https://doi.org/10.3892/mmr.2018.8837
Copy and paste a formatted citation
x
Spandidos Publications style
Lee C, Jang J and Jin HS: A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report. Mol Med Rep 17: 7611-7617, 2018.
APA
Lee, C., Jang, J., & Jin, H. (2018). A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report. Molecular Medicine Reports, 17, 7611-7617. https://doi.org/10.3892/mmr.2018.8837
MLA
Lee, C., Jang, J., Jin, H."A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report". Molecular Medicine Reports 17.6 (2018): 7611-7617.
Chicago
Lee, C., Jang, J., Jin, H."A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report". Molecular Medicine Reports 17, no. 6 (2018): 7611-7617. https://doi.org/10.3892/mmr.2018.8837
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