ArticleJCI insight2018
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Article in JCI insight, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.
- Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.Thyroid : official journal of the American Thyroid Association · 2021Guideline
- Approach to the patient: genetics and management of congenital hypothyroidism.The Journal of clinical endocrinology and metabolism · 2026Article
- Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges.European thyroid journal · 2025Review
- Newborn screening and the screening laboratory: past, present and future.European thyroid journal · 2025Review
- InvestigatingFrontiers in endocrinology · 2025Article
- Primary congenital hypothyroidism: a clinical review.Frontiers in endocrinology · 2025Review
- CouldDiagnostics (Basel, Switzerland) · 2024Article
- Deciphering the mystery of CHNG3.Annals of pediatric endocrinology & metabolism · 2024Article
- Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.Italian journal of pediatrics · 2024Article
- Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs.International journal of molecular sciences · 2024Review
- The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.The Journal of clinical endocrinology and metabolism · 2023Article
- Inferring cell-type-specific causal gene regulatory networks during human neurogenesis.Genome biology · 2023Article
- SLC26 family: a new insight for kidney stone disease.Frontiers in physiology · 2023Review
- Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision).Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- Genetic disorders of thyroid development, hormone biosynthesis and signalling.Clinical endocrinology · 2022Review
- Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.International journal of molecular sciences · 2022Article
- SLC26A4 correlates with homologous recombination deficiency and patient prognosis in prostate cancer.Journal of translational medicine · 2022Article
- The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice.Scientific reports · 2022Article
- MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.European journal of endocrinology · 2022Review
- Genetics of congenital hypothyroidism: Modern concepts.Pediatric investigation · 2022Review
Corrections and comments
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Authors and funding
28 authors at 13 institutions in 4 countries.
Funding
Abstract
Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that goitrous hypothyroidism also occurs in Slc26a7-null mice. In both species, the gene is expressed predominantly in the thyroid gland, and loss of function is associated with impaired availability of iodine for thyroid hormone synthesis, partially corrected in mice by iodine supplementation. SLC26A7 is a member of the same transporter family as SLC26A4 (pendrin), an anion exchanger with affinity for iodide and chloride (among others), whose gene mutations cause congenital deafness and dyshormonogenic goiter. However, in contrast to pendrin, SLC26A7 does not mediate cellular iodide efflux and hearing in affected individuals is normal. We delineate a hitherto unrecognized role for SLC26A7 in thyroid hormone biosynthesis, for which the mechanism remains unclear.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.