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. 2023 Jan;103(1):114-118.
doi: 10.1111/cge.14229. Epub 2022 Sep 17.

Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology

Sara Gómez-Conde  1 , Olivier Dunand  2 , Aurélie Hummel  3 , Vincent Morinière  4 , Marion Gauthier  5 , Laurent Mesnard  6 , Laurence Heidet  1
Affiliations

Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology

Sara Gómez-Conde et al. Clin Genet. 2023 Jan.

Abstract

Integrin Subunit Alpha 8 gene (ITGA8) encodes an integrin chain that is known to be critical in the early stage of the kidney development. Bi-allelic pathogenic variants in ITGA8 are associated with bilateral renal agenesis, as well as anomalies involving urogenital system. Here, we report two unrelated patients presenting with slowly progressing chronic kidney disease associated with bilateral renal hypodysplasia carrying homozygous loss of function variants in the ITGA8 gene. These results broaden the clinical and genotypic spectrum of ITGA8 defects, revealing the high and unexpected degree of phenotypic heterogeneity of this autosomal recessive disease. Our study emphasizes the usefulness of Next-Generation Sequencing in unraveling the genetic cause of chronic kidney disease of unknown etiology, and raises the question of genetic modifiers involved in the variation of the phenotypes associated with autosomal recessive ITGA8 pathogenic variants.

Keywords: ITGA8; chronic kidney disease; congenital anomalies of kidney and urinary tract; next generation sequencing.

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References

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