Use of patient-derived cell models for characterization of compound heterozygous hypomorphic <i>C2CD3</i> variants in a patient with isolated nephronophthisis
Biallelic hypomorphic missense variants in C2CD3 may contribute to an isolated nephronophthisis phenotype with impaired ciliogenesis and SHH signaling. Our findings underscore the importance of functional testing to characterize candidate gene-disease relationships in patients with nephropathy of unknown etiology.
Authors
- Paul Goodyer (ORCID: https://orcid.org/0000-0002-3442-1407)
- Thomas M. Kitzler (ORCID: https://orcid.org/0009-0006-1537-5237)
- Lee Lee Chu
- Chen-Fang Chung
- Lina Mougharbel (ORCID: https://orcid.org/0009-0009-9121-2853)
- David S. Rosenblatt (ORCID: https://orcid.org/0000-0002-0548-365X)
- Sima Babayeva
- Jacek Majewski (ORCID: https://orcid.org/0000-0003-3572-9558)
- Mihaela Pupavac (ORCID: https://orcid.org/0000-0002-7965-2188)
- Zachary T. Sentell (ORCID: https://orcid.org/0000-0001-6005-7111)
- Murielle M. Akpa
- Elena Torban (ORCID: https://orcid.org/0000-0002-9836-8246)
- Zachary W Nurcombe
- Rui Li (ORCID: https://orcid.org/0000-0002-4803-5339)
- Jean‐Baptiste Rivière
- M. Henein
Institutions
- McGill University Health Centre (CA)
- McGill University (CA)
Publication Details
- Journal
- Human Molecular Genetics
- Published
- 2024-12-18
- DOI
- https://doi.org/10.1093/hmg/ddae182
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- McGill University
- McGill University Health Centre
- Hospital for Sick Children
- Canadian Institutes of Health Research
- Fonds de Recherche du Québec - Santé