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

Stephanie L. Hines, Anjali Agarwal, Mohamedanwar Ghandour, Aslam Nabeel, Ahmed N. Mohammad, Paldeep S. Atwal

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

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.

Original languageEnglish (US)
Article number15
JournalHuman Genome Variation
Volume5
Issue number1
DOIs
StatePublished - Dec 1 2018

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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