COL4A4 variant recently identified: lessons learned in variant interpretation-a case report.

ABSTRACT:

Background

Alport syndrome is a hereditary kidney disease characterized by hematuria and proteinuria. Although there have been reports of autosomal dominant COL4A4 variants, this is likely an underdiagnosed condition. Improved access to affordable genetic testing has increased the diagnosis of Alport syndrome. As genetic testing becomes ubiquitous, it is imperative that clinical nephrologists understand the benefits and challenges associated with clinical genetic testing.

Case presentation

We present a family of Mexican descent with a heterozygous COL4A4 variant (c.5007delC, ClinVar accession numbers: SCV001580980.2, SCV001993731.1) not previously discussed in detail in the literature. The proband received a biopsy diagnosis suggestive of Fabry disease 18 years after she fir

SUBMITTER: Cocorpus J 

PROVIDER: S-EPMC9287857 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature