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

Hines, S. L., Agarwal, A., Ghandour, M., Aslam, N., Mohammad, A. N. and Atwal, P. S. (2018) Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families. Human Genome Variation, 5, 15. (doi: 10.1038/s41439-018-0016-8) (PMID:30002862) (PMCID:PMC6039481)

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.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Atwal, Dr Paldeep
• Authors: Hines, S. L., Agarwal, A., Ghandour, M., Aslam, N., Mohammad, A. N., and Atwal, P. S.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Human Genome Variation
• Publisher: Nature Publishing Group
• ISSN: 2054-345X
• ISSN (Online): 2054-345X
• Copyright Holders: Copyright © 2018 The Authors
• First Published: First published in Human Genome Variation 5: 15
• Publisher Policy: Reproduced under a Creative Commons License