Finnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis
We describe variable phenotypes associated with the <i>SLC26A7</i> pathogenic variant, ranging from severe CH with large congenital goiters to delayed onset hypothyroidism and dentofacial abnormalities. SLC26A7 shows thyrotropin-, GNAS-, and dietary iodine-dependent basolateral localization, suggesting their role in phenotypic variations.
Authors
- Laura Niuro (ORCID: https://orcid.org/0000-0002-3018-9479)
- FinnGen FinnGen
- Sofia Tyystjärvi (ORCID: https://orcid.org/0000-0002-5057-1923)
- Emmi Danner (ORCID: https://orcid.org/0000-0001-8662-9907)
- Christoffer Löf (ORCID: https://orcid.org/0000-0002-7149-5528)
- Jarmo Jääskeläinen (ORCID: https://orcid.org/0000-0003-0189-6323)
- Johanna Ojala (ORCID: https://orcid.org/0000-0002-8528-1387)
- Konrad Patyra (ORCID: https://orcid.org/0000-0001-7458-2291)
- Meeri Jännäri
- Päivi J. Miettinen (ORCID: https://orcid.org/0000-0002-5184-9616)
- Andreina Kero (ORCID: https://orcid.org/0000-0002-4006-3167)
- Veli Linnossuo
- Harri Niinikoski
- Liisa Viikari
- Kristiina Makkonen
- Nadia Schoenmakers
- Rowmika Ravi
- Sofia Palmu
- Jukka Kero
- Mary Pat Reeve
- Vladyslav Melnyk
- Hanna Huopio
Institutions
- University of Helsinki (FI)
- University of Turku (FI)
- University of Cambridge (GB)
- Turku University Hospital (FI)
- University College Birmingham (GB)
- Helsinki Children's Hospital (FI)
- Kuopio University Hospital (FI)
- Wellcome/MRC Institute of Metabolic Science (GB)
- Tampere University Hospital (FI)
- Tampere University (FI)
- Institute for Molecular Medicine Finland (FI)
- University of Birmingham (GB)
- Wellcome Trust (GB)
Publication Details
- Journal
- Thyroid
- Published
- 2026-01-22
- DOI
- https://doi.org/10.1177/10507256251411983
- Primary Topic
- Thyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00