Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype
We present the first genetic evidence, underlined by immunohistochemistry and protein binding assays, linking TMEM72 variants to kidney disease and ciliary function. We conclude that TMEM72 is a candidate gene for NPHP. Future work is needed to further characterize TMEM72 variants and unravel its disease mechanism.
Authors
- Gijs van Haaften (ORCID: https://orcid.org/0000-0003-3033-0329)
- Federico Tessadori (ORCID: https://orcid.org/0000-0001-9975-0546)
- Verena Klämbt (ORCID: https://orcid.org/0000-0003-1180-0794)
- Laura R. Claus (ORCID: https://orcid.org/0000-0003-2364-4362)
- Roel Broekhuizen (ORCID: https://orcid.org/0000-0002-5495-9327)
- Walter J. Brummelhuis
- Marius Ueffing (ORCID: https://orcid.org/0000-0003-2209-2113)
- Alexandre Karras (ORCID: https://orcid.org/0000-0002-3075-7739)
- Martin Elferink (ORCID: https://orcid.org/0000-0002-7940-7422)
- Karsten Boldt (ORCID: https://orcid.org/0000-0002-2693-689X)
- Siebren Faber (ORCID: https://orcid.org/0000-0002-2852-8478)
- John Andrew Sayer (ORCID: https://orcid.org/0000-0003-1881-3782)
- Gisela G. Slaats (ORCID: https://orcid.org/0000-0002-4567-0134)
- Edith Peters
- Marijn F. Stokman (ORCID: https://orcid.org/0000-0002-6446-3448)
- Maarten B. Rookmaaker (ORCID: https://orcid.org/0000-0002-0577-4641)
- Laure Raymond (ORCID: https://orcid.org/0000-0002-6967-0972)
- Sanne M. C. Savelberg (ORCID: https://orcid.org/0000-0002-2054-5521)
- Ruxandra Neatu (ORCID: https://orcid.org/0000-0003-0639-2175)
- Elena Sendino Garví (ORCID: https://orcid.org/0000-0001-9378-3670)
- Ronald Roepman (ORCID: https://orcid.org/0000-0002-5178-8163)
- Daniel P. Gale (ORCID: https://orcid.org/0000-0002-9170-1579)
- Cyril Mousseaux (ORCID: https://orcid.org/0000-0003-1930-8817)
- Eric Olinger (ORCID: https://orcid.org/0000-0003-1178-7980)
- Tri Q. Nguyen (ORCID: https://orcid.org/0000-0001-6475-0706)
- Albertien M. van Eerde (ORCID: https://orcid.org/0000-0001-5953-5956)
- Nine V.A.M. Knoers (ORCID: https://orcid.org/0000-0001-7454-7795)
- Omid Sadeghi‐Alavijeh (ORCID: https://orcid.org/0000-0002-7753-0662)
- Rozemarijn Snoek (ORCID: https://orcid.org/0000-0001-6892-3168)
- Laurent Mesnard (ORCID: https://orcid.org/0000-0002-0339-3757)
- Bert van der Zwaag
- Karen Duran
- Friedhelm Hildebrandt (ORCID: https://orcid.org/0000-0003-2655-387X)
- Suzanne W. van der Veen
- Aurelius J.C. Roskothen-Shevchuk
Institutions
- Boston Children's Hospital (US)
- University Medical Center Groningen (NL)
- Radboud University Nijmegen (NL)
- Utrecht University (NL)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Radboud University Medical Center (NL)
- University Medical Center Utrecht (NL)
- Sorbonne Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital Européen Georges-Pompidou (FR)
- Hôpital Européen (FR)
- Hubrecht Institute for Developmental Biology and Stem Cell Research (NL)
- NIHR Newcastle Biomedical Research Centre (GB)
- Genomics England (GB)
- University College London (GB)
- University of Tübingen (DE)
- Newcastle University (GB)
Publication Details
- Journal
- The Nephron journals/Nephron journals
- Published
- 2025-11-27
- DOI
- https://doi.org/10.1159/000549598
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Science Foundation
- Wellcome Trust
- LifeArc
- Cancer Research UK
- National Institute for Health and Care Research
- Department of Health and Social Care
- Kidney Research UK
- European Commission
- Deutsche Forschungsgemeinschaft
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- Nierstichting
- European Rare Kidney Disease Reference Network
- National Institutes of Health
- HORIZON EUROPE Framework Programme
- Medical Research Council