Genetic diagnosis of Alport syndrome in 16 Chinese families

Background Alport syndrome (AS) is a genetically heterogeneous disorder resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. The genetic diagnosis of AS is very important to make precise diagnosis and achieve optimal outcomes. Methods In this study, 16 Chinese families with...

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Bibliographic Details
Published in:Molecular genetics & genomic medicine 2024-03, Vol.12 (3), p.e2406-n/a
Main Authors: Xiao, Tangli, Zhang, Jun, Liu, Li, Zhang, Bo
Format: Article
Language:English
Subjects:
Adult
Alport syndrome
Asian People - genetics
Basement membranes
Biopsy
China
COL4A3
COL4A4
COL4A5
Collagen (type IV)
Collagen Type IV - genetics
Cysts
Diagnosis
Female
Genes
Genetic counseling
Genetic diversity
Genetic screening
Genetic testing
Hematuria
Humans
Kidney
Kidney diseases
Male
Medical prognosis
Microscopy
Mutation
Nephritis, Hereditary - diagnosis
Nephritis, Hereditary - genetics
Original
Patients
variants
Visual impairment
Young Adult
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Summary:Background Alport syndrome (AS) is a genetically heterogeneous disorder resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. The genetic diagnosis of AS is very important to make precise diagnosis and achieve optimal outcomes. Methods In this study, 16 Chinese families with suspected AS were recruited after pedigree analysis, and the clinical presentations were analyzed by a nephrologist. The genetic diagnosis was performed by whole‐exome sequencing (WES) and the disease‐causing variants were confirmed by Sanger sequencing. Results The cohort of probands included seven men and nine women, with a mean age of 19.9 years. Pathological analysis showed slight‐to‐moderate mesangial proliferation, and thin basement membrane was the main findings. Pathogenic variants were revealed by WES in each family, and the co‐segregation with renal presentation was confirmed by PCR. In addition, RT‐PCR analysis showed that the intronic variant led to aberrant splicing. Conclusion Our findings expand the spectrum of AS gene variation, which will inform genetic diagnosis and add to the theoretical basis for the prevention of AS. Pathogenic variants were revealed by WES in each family, and the co‐segregation with renal presentation was confirmed by PCR. Our findings expand the spectrum of gene variation.
ISSN:2324-9269
2324-9269
DOI:10.1002/mgg3.2406