Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families

Human Genome Variation
Stephanie L HinesPaldeep S Atwal

Abstract

We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport syndrome. The second patient was found to have a heterozygous, likely pathogenic variant in COL4A4 (c.2842G>T). Both these variants in COL4A5 and COL4A4 are novel, and they were detected using whole exome sequencing and gene panel testing, respectively. Additionally, we discuss the complexities of diagnosis in such cases and the benefits of using the abovementioned diagnostic approaches.

References

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Citations

Jun 30, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Erol Demir, Yasar Caliskan
May 31, 2019·Molecular Genetics & Genomic Medicine·Shunlai ShangXiang M Chen
Jul 30, 2020·Cold Spring Harbor Molecular Case Studies·Katherine A BensonPeter J Conlon
Jul 6, 2021·World Journal of Clinical Cases·Hui-Fang LiuYou-Qun Peng

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Methods Mentioned

BETA
light microscopy
exome sequencing
biopsy

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