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Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome

  • Authors:
    • Xuechao Zhao
    • Xueliang Shang
    • Chen Chen
    • Lina Liu
    • Conghui Wang
    • Ganye Zhao
    • Junjun Zhang
    • Xiangdong Kong
  • View Affiliations / Copyright

    Affiliations: Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Zhengzhou, Henan 450052, P.R. China, School of Psychology, North China University of Science and Technology, Tang'shan, Hebei 063210, P.R. China, Research Institute of Nephrology, Zhengzhou University, Zhengzhou, Henan 450052, P.R. China
    Copyright: © Zhao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 4
    |
    Published online on: June 9, 2020
       https://doi.org/10.3892/br.2020.1311
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Abstract

Alport syndrome (AS) is an inherited progressive nephropathy caused by mutations in one or two of the type IV collagen novel chains (α3, α4 and α5), which are encoded by COL4A3, COL4A4 and COL4A5, respectively. To date, three genetic forms of AS have been reported, including X‑linked AS, autosomal recessive AS, and autosomal dominant AS, and ~80% of patients have X‑linked AS caused by mutations in COL4A5. In the present study, four novel and one previously reported COL4A5 mutations were identified using targeted next‑generation sequencing in Chinese patients suspected of having AS. The results were confirmed by Sanger sequencing, which revealed two novel missense mutations resulting in the substitution of various glycine residues in a collagenous domain containing Gly‑X‑Y triplet sequence repeats [c.4198G>C, p.(Gly1400Arg) and c.3428G>T, p.(Gly1143Val)], a previously reported missense mutation [c.3071G>A, p.(Gly1024Glu)], a splice site mutation (c.2146+2T>A) and one frameshift mutation [c.1810delC (p.Thr605Ilefs*13)]. After analyzing the affected family members, it was shown that the identified mutations were associated with severe clinical phenotypes. These results broaden the known spectrum of mutations of the COL4A5 gene associated with AS and may have implications for genetic diagnosis, therapy and genetic counseling of affected families.
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1 

Gubler MC: Inherited diseases of the glomerular basement membrane. Nat Clin Prac Nephrol. 4:24–37. 2008.PubMed/NCBI View Article : Google Scholar

2 

Hudson BG, Tryggvason K, Sundaramoorthy M and Neilson EG: Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N Engl J Med. 348:2543–2556. 2003.PubMed/NCBI View Article : Google Scholar

3 

Alport AC: Hereditary familial congenital haemorrhagic nephritis. Br Med J. 1:504–506. 1927.PubMed/NCBI View Article : Google Scholar

4 

Han KH, Park JE and Ki CS: De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea. Korean J Pediatr. 62:193–197. 2019.PubMed/NCBI View Article : Google Scholar

5 

Behjati S and Tarpey PS: What is next generation sequencing? Arch Dis Child Educ Pract Ed. 98:236–238. 2013.PubMed/NCBI View Article : Google Scholar

6 

Wei G, Zhihong L, Huiping C, Caihong Z, Zhaohong C and Leishi L: Spectrum of clinical features and type IV collagen alpha-chain distribution in Chinese patients with Alport syndrome. Nephrology, dialysis, transplantation: Official publication of the European Dialysis and Transplant Association. European Renal Association. 21:3146–3154. 2006.

7 

Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL and Tryggvason K: Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science. 248:1224–1227. 1990.PubMed/NCBI View Article : Google Scholar

8 

Kashtan CE: Alport syndromes: Phenotypic heterogeneity of progressive hereditary nephritis. Pediatr Nephrol. 14:502–512. 2000.PubMed/NCBI View Article : Google Scholar

9 

Meleg-Smith S, Magliato S, Cheles M, Garola RE and Kashtan CE: X-linked Alport syndrome in females. Hum Pathol. 29:404–408. 1998.PubMed/NCBI View Article : Google Scholar

10 

Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, et al: X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families: A ‘European community Alport syndrome concerted action’ study. J Am Soc Nephrol. 14:2603–2610. 2003.PubMed/NCBI View Article : Google Scholar

11 

Tsiakkis D, Pieri M, Koupepidou P, Demosthenous P, Panayidou K and Deltas C: Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5. Clin Genet. 82:297–299. 2012.PubMed/NCBI View Article : Google Scholar

12 

Zhao X, Chen C, Wei Y, Zhao G, Liu L, Wang C Zhang J and Kong X: Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport syndrome using next generation sequence technique. Mol Genet Genomic Med. 7(e653)2019.PubMed/NCBI View Article : Google Scholar

13 

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.PubMed/NCBI View Article : Google Scholar

14 

Wang YF, Ding J, Wang F and Bu DF: Effect of glycine substitutions on alpha5(IV) chain structure and structure-phenotype correlations in Alport syndrome. Biochem Biophys Res Commun. 316:1143–1149. 2004.PubMed/NCBI View Article : Google Scholar

15 

Hudson BG: The molecular basis of Goodpasture and Alport syndromes: Beacons for the discovery of the collagen IV family. J Am Soc Nephrol. 15:2514–2527. 2004.PubMed/NCBI View Article : Google Scholar

16 

Kashtan CE: Alport Syndrome and thin basement membrane nephropathy. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al, editors. GeneReviews((R)). Seattle (WA) 1993.

17 

Slajpah M, Gorinsek B, Berginc G, Vizjak A, Ferluga D, Hvala A, Meglic A, Jaksa I, Furlan P, Gregoric A, et al: Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney Int. 71:1287–1295. 2007.PubMed/NCBI View Article : Google Scholar

18 

Demosthenous P, Voskarides K, Stylianou K, Hadjigavriel M, Arsali M, Patsias C, Georgaki E, Zirogiannis P, Stavrou C, Daphnis E, et al: X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5. Clin Genet. 81:240–248. 2012.PubMed/NCBI View Article : Google Scholar

19 

Xiu X, Yuan J, Deng X, Xiao J, Xu H, Zeng Z, Guan L, Xu F and Deng S: A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing. Biomed Res Int. 2014(186048)2014.PubMed/NCBI View Article : Google Scholar

20 

Morinière V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, et al: Improving mutation screening in familial hematuric nephropathies through next generation sequencing. J Am Soc Nephrol. 25:2740–2751. 2014.PubMed/NCBI View Article : Google Scholar

21 

Zhou J, Hertz JM and Tryggvason K: Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: Detection by denaturing gradient gel electrophoresis of a PCR product. Am J Hum Genet. 50:1291–1300. 1992.PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Zhao X, Shang X, Chen C, Liu L, Wang C, Zhao G, Zhang J and Kong X: Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome. Biomed Rep 13: 4, 2020.
APA
Zhao, X., Shang, X., Chen, C., Liu, L., Wang, C., Zhao, G. ... Kong, X. (2020). Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome. Biomedical Reports, 13, 4. https://doi.org/10.3892/br.2020.1311
MLA
Zhao, X., Shang, X., Chen, C., Liu, L., Wang, C., Zhao, G., Zhang, J., Kong, X."Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome". Biomedical Reports 13.2 (2020): 4.
Chicago
Zhao, X., Shang, X., Chen, C., Liu, L., Wang, C., Zhao, G., Zhang, J., Kong, X."Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome". Biomedical Reports 13, no. 2 (2020): 4. https://doi.org/10.3892/br.2020.1311
Copy and paste a formatted citation
x
Spandidos Publications style
Zhao X, Shang X, Chen C, Liu L, Wang C, Zhao G, Zhang J and Kong X: Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome. Biomed Rep 13: 4, 2020.
APA
Zhao, X., Shang, X., Chen, C., Liu, L., Wang, C., Zhao, G. ... Kong, X. (2020). Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome. Biomedical Reports, 13, 4. https://doi.org/10.3892/br.2020.1311
MLA
Zhao, X., Shang, X., Chen, C., Liu, L., Wang, C., Zhao, G., Zhang, J., Kong, X."Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome". Biomedical Reports 13.2 (2020): 4.
Chicago
Zhao, X., Shang, X., Chen, C., Liu, L., Wang, C., Zhao, G., Zhang, J., Kong, X."Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome". Biomedical Reports 13, no. 2 (2020): 4. https://doi.org/10.3892/br.2020.1311
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