Identification of a novel pathogenic <em>COL4A3</em> gene mutation in a Chinese family with autosomal dominant Alport syndrome: A case report

Nie,Da-An; Xia,Chao-Rui; Huang,Ke-Cheng; Liu,Jie; Gan,Ting; Wen,Cheng; Zeng,Zhi-Peng

doi:10.3892/br.2021.1466

Identification of a novel pathogenic COL4A3 gene mutation in a Chinese family with autosomal dominant Alport syndrome: A case report

Authors:
- Da-An Nie
- Chao-Rui Xia
- Ke-Cheng Huang
- Jie Liu
- Ting Gan
- Cheng Wen
- Zhi-Peng Zeng
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Affiliations: Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China, Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China, Department of Endocrinology, Xiaogan First People's Hospital, Xiaogan, Hubei 432000, P.R. China, Department of Rheumatology and Immunology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China
Published online on: August 30, 2021 https://doi.org/10.3892/br.2021.1466
Article Number: 90

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Abstract

Alport syndrome (AS) is a genetic disease with various manifestations, including hematuria, proteinuria, impaired renal function and potential ocular or auditory abnormalities. Mutations in the collagen type IV α 3 chain (COL4A3), collagen type IV α 4 chain and collagen type IV α 5 chain genes encoding the α3, α4 and α5 chains of type IV collagen may undermine glomerular basement membrane (GBM) integrity and cause persistent renal deterioration. In the present study, the case of a Chinese family diagnosed with AS was examined. Pedigree investigations and whole exome sequencing (WES) revealed the presence of two heterozygous mutations (c.2603G>A; p.G868E, and c.583G>A; p.G195S) in the COL4A3 gene. p.G868E was identified as the ‘culprit’ mutation, whereas p.G195S was identified as an ‘auxiliary’ mutation for AS with regards to the manifestations observed in the patients carrying each of the gene mutations. In conclusion, these findings suggested that c.2603G>A may be a novel overt pathogenic mutation site for autosomal dominant AS. In addition, WES may be effective for the early diagnosis and medical intervention of AS, and may be widely used for AS prognosis prediction and pre‑implantation genetic diagnosis.

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