ArticleThe Journal of clinical endocrinology and metabolism2009
Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
Article in The Journal of clinical endocrinology and metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.
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Who cites it
56 citing papers in PubMed, 2 syntheses or guidelines pooled it, 115 citations in OpenAlex.
- 2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.European thyroid journal · 2024Guideline
- Selenium Homeostasis and Clustering of Cardiovascular Risk Factors: A Systematic Review.Acta bio-medica : Atenei Parmensis · 2017Pooled it
- Selenium Status Is Positively Associated with Bone Mineral Density in Healthy Aging European Men.PloS one · 2016Trial
- Genetics of selenoproteins and selenoprotein metabolism - An overview of current concepts and emerging aspects.Redox biology · 2026Review
- A Rare Cause of Thyroid Hormone Abnormalities in an Adolescent: A Case Report of SBP2 (SECISBP2) Deficiency.Molecular syndromology · 2026Article
- Iron and selenium: At the crossroads of development and death in oligodendrocytes.Archives of biochemistry and biophysics · 2025Review
- Lifestyle Interventions to Tackle Cardiovascular Risk in Thyroid Hormone Signaling Disorders.Nutrients · 2025Review
- The First-Ever Investigation of SNP rs119461977 in SECISBP2/SBP2 Gene and its Implications for Hypothyroidism: A Novel Case-Control Research.Indian journal of clinical biochemistry : IJCB · 2025Article
- EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.American journal of human genetics · 2025Article
- Case Report: A homozygous selenocysteine insertion sequence-binding protein 2 (Frontiers in pediatrics · 2025Article
- Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay.International journal of molecular sciences · 2024Article
- Gene polymorphisms and thyroid hormone signaling: implication for the treatment of hypothyroidism.Endocrine · 2024Review
- Advancing Research and Treatment: An Overview of Clinical Trials in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and Future Perspectives.Journal of clinical medicine · 2024Review
- Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.Nature communications · 2023Article
- Novel Missense Variants inInternational journal of molecular sciences · 2023Article
- Selenoprotein I (selenoi) as a critical enzyme in the central nervous system.Archives of biochemistry and biophysics · 2022Article
- High-Resolution Ribosome Profiling Reveals Gene-Specific Details of UGA Re-Coding in Selenoprotein Biosynthesis.Biomolecules · 2022Article
- Genetic disorders of thyroid development, hormone biosynthesis and signalling.Clinical endocrinology · 2022Review
- Observational
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
Abstract
contextAlthough acquired abnormalities of thyroid hormone metabolism are common, inherited defects in humans involving the synthesis of selenoproteins, including iodothyronine deiodinases, have been described in only one recent publication.
objectiveWe report the study of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X) and its clinical and molecular characterization. SUBJECTS AND
methodsA family of African origin was studied. The proband presented with growth retardation, low serum selenium level, and thyroid test abnormalities consisting of high serum total and free T(4) concentrations associated with low T(3), high rT(3), and normal TSH. The entire coding region of the SBP2 gene was sequenced and minigenes constructed to explain the nature of the defect.
resultsThe proband was homozygous for a nonsense gene mutation that produces an early stop codon (R128X). Both parents and a sister were heterozygous but showed no growth or thyroid test abnormalities. Despite the severity of the defect, the patient had a relatively mild phenotype, similar to that associated with partial SBP2 deficiency. In vitro analysis showed that the mutant minigene synthesized SBP2 from at least three downstream ATGs capable of generating molecules containing the essential functional domains. Treatment with l-T(3) accelerated the growth velocity and advanced the bone age.
conclusionsWe identified a novel SBP2 gene mutation producing an early arrest in the synthesis of a full-length molecule. The demonstration that SBP2 isoforms containing all functional domains could be synthesized from three downstream ATGs explains the relatively mild phenotype caused by this defect.
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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.