Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.
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ABSTRACT:
SUBMITTER: Hines SL
PROVIDER: S-EPMC6039481 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
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Novel variants in <i>COL4A4</i> and <i>COL4A5</i> are rare causes of FSGS in two unrelated families.
Hines Stephanie L SL Agarwal Anjali A Ghandour Mohamedanwar M Aslam Nabeel N Mohammad Ahmed N AN Atwal Paldeep S PS
Human genome variation 20180710
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 <i>COL4A5</i> (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 <i>COL4A4</i> (c.2842G>T). Both these variants in <i>COL4A5</i> and <i>COL4A4</i> are novel, and they were detected using whole exome sequencing and gene pa ...[more]
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