Academic Journal
Bi‐allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology
| العنوان: | Bi‐allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology |
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| المؤلفون: | Gómez‐Conde, Sara, Dunand, Olivier, Hummel, Aurélie, Morinière, Vincent, Gauthier, Marion, Mesnard, Laurent, Heidet, Laurence |
| المساهمون: | Eusko Jaurlaritza, Biocruces Bizkaia Health Research Institute |
| المصدر: | Clinical Genetics ; volume 103, issue 1, page 114-118 ; ISSN 0009-9163 1399-0004 |
| بيانات النشر: | Wiley |
| سنة النشر: | 2022 |
| المجموعة: | Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1111/cge.14229 |
| الاتاحة: | http://dx.doi.org/10.1111/cge.14229 https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14229 https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.14229 |
| Rights: | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| رقم الانضمام: | edsbas.91EC5EEE |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/cge.14229 |
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