Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease
ES enabled the identification of pathogenic variants in known genes associated with kidney diseases, nonkidney conditions, and multisystem disorders with secondary kidney involvement, thereby improving diagnosis accuracy, even in incomplete or atypical cases, and guiding specific diagnostic and therapeutic approaches. The identification of SSBP1 in association with tubulointerstitial nephropathy may provide new insights into the pathogenesis of ciliopathies.
Authors
- Sophie Saunier (ORCID: https://orcid.org/0000-0002-1069-0047)
- Hassan Saei (ORCID: https://orcid.org/0000-0002-7345-7082)
- Friederike Petzold (ORCID: https://orcid.org/0000-0003-3530-2888)
- Guillaume Dorval (ORCID: https://orcid.org/0000-0003-3883-1398)
- Vincent Morinière (ORCID: https://orcid.org/0000-0003-1795-222X)
- Corinne Antignac (ORCID: https://orcid.org/0000-0002-9934-4940)
- Laurence Heidet (ORCID: https://orcid.org/0000-0002-1362-5515)
- Marc Jeanpierre (ORCID: https://orcid.org/0000-0002-3463-5907)
- Alexandre Benmerah (ORCID: https://orcid.org/0000-0003-0188-8016)
- Xiaoyi Chen (ORCID: https://orcid.org/0000-0002-7378-5158)
Institutions
- Hôpital Necker-Enfants Malades (FR)
- Inserm (FR)
- Université Paris Cité (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Institut des Maladies Génétiques Imagine (FR)
Publication Details
- Journal
- Clinical Journal of the American Society of Nephrology
- Published
- 2025-12-04
- DOI
- https://doi.org/10.2215/cjn.0000000905
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00