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CASE REPORT article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1426806

Case Report: A Novel Compound Heterozygous Variant in COL4A3 Gene Identified in a Patient with Autosomal Recessive Alport Syndrome

Provisionally accepted
Sha Chen Sha Chen 1Yufeng Zhang Yufeng Zhang 1Jinjin He Jinjin He 2Dingwei Yang Dingwei Yang 1*
  • 1 Department of Nephrology, Tianjin Hospital, Tianjin University, Tianjin, China
  • 2 Clinical College of Orthopedics, Tianjin Medical University, Tianjin, Tianjin Municipality, China

The final, formatted version of the article will be published soon.

    Alport syndrome (AS), a hereditary kidney disease with high risk of renal failure, is attributed to the pathogenic variants in genes COL4A3, COL4A4 or COL4A5 that encode type IV collagen. The next-generation sequencing (NGS) is increasingly applied to the diagnosis of AS, but complex genotype-phenotype correlation, that is identifying the significance of variants, is still a huge clinical challenge. Here, we reported a 27-year-old Chinese woman with a family history of hematuria and proteinuria. Notably, the proband is the only one in her family who showed renal insufficiency. NGS was performed in this family and revealed that the proband was compound heterozygote for two variants in the COL4A3 gene, including c.2990G>A inherited from her father and c.4981C>T inherited from her mother. We modeled the spatial structure of corresponding protein and supposed that structural abnormalities led to the breakdown of type IV collagen networks, a major component of glomerular basement membrane. Thus, the proband was diagnosed with autosomal recessive AS characterized by severe defects of glomerular basement membrane. It is why the proband showed the loss of renal function. This case presentation emphasizes the importance of NGS for AS diagnosis and provides a novel genotype of AS.

    Keywords: Alport syndrome1, COL4A32, compound heterozygous variant3, next-generation sequencing4, Case report5

    Received: 02 May 2024; Accepted: 21 Jun 2024.

    Copyright: © 2024 Chen, Zhang, He and Yang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Dingwei Yang, Department of Nephrology, Tianjin Hospital, Tianjin University, Tianjin, 300072, China

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