Observational studyThe Journal of clinical endocrinology and metabolism2016
Mutations in TBL1X Are Associated With Central Hypothyroidism.
Open access · hybridAbstract readObservational Study
In one paragraph
Observational study in The Journal of clinical endocrinology and metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed, 1 pooled it
7.7field-weighted citation impact, top 2% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 93 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
- Dysfunction of a SET3-like complex underlies a family of related neurological disorders.Nature communications · 2026Article
- A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome.Nature communications · 2025Article
- Newborn screening for central congenital hypothyroidism: past, present and future.European thyroid journal · 2025Review
- Transcriptional Cofactors for Thyroid Hormone Receptors.Endocrinology · 2025Review
- Disturbed function of TBL1X has a differential effect on T3-regulated gene expression in two human liver cell models.European thyroid journal · 2024Article
- Comparing the roles of sex chromosome-encoded protein homologs in gene regulation.Genes & development · 2024Review
- Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.Reviews in endocrine & metabolic disorders · 2024Review
- The hypothalamic-pituitary-thyroid axis is intact in male insulin receptor substrate 4 knockout mice.European thyroid journal · 2024Article
- Article
- The role of transducin β-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice.European thyroid journal · 2023Article
- Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch?European thyroid journal · 2023Review
- Hypothyroidism: The difficulty in attributing symptoms to their underlying cause.Frontiers in endocrinology · 2023Review
- An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.Human molecular genetics · 2022Article
- Genetics of congenital hypothyroidism: Modern concepts.Pediatric investigation · 2022Review
- What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.Journal of clinical medicine · 2021Article
- The Role of Histone Deacetylase 3 Complex in Nuclear Hormone Receptor Action.International journal of molecular sciences · 2021Review
- Low free thyroxine and normal thyroid-stimulating hormone in infants and children: possible causes and diagnostic work-up.European journal of pediatrics · 2021Review
- Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings.The Journal of clinical endocrinology and metabolism · 2021Article
Corrections and comments
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Authors and funding
21 authors at 4 institutions in 2 countries.
Charlotte A HeinenDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Monique LosekootDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Yu SunDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Peter J WatsonDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Louise FairallDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Sjoerd D JoustraDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Nitash Zwaveling-SoonawalaDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Wilma OostdijkDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Erica L T van den AkkerDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Mariëlle AldersDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Gijs W E SantenDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Rick R van RijnDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Wouter A DreschlerDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Olga V SurovtsevaDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Nienke R BiermaszDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Raoul C HennekamDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Jan M WitDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
John W R SchwabeDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Anita BoelenDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Eric FliersDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
A S Paul van TrotsenburgDepartment of Endocrinology and Metabolism (C.A.H., O.V.S., A.B., E.F.), Clinical Genetics (M.A.), and Clinical and Experimental Audiology (W.A.D.), Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Paediatric Endocrinology (C.A.H., N.Z.-S., A.S.P.v.T.), Radiology (R.R.v.R.), and Paediatrics (R.C.H.), Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, 1100 DD Amsterdam, The Netherlands; Departments of Clinical Genetics (M.L., Y.S., G.W.E.S.), Paediatrics (S.D.J., W.O., J.M.W.), and Endocrinology and Metabolism (S.D.J., N.R.B.), Leiden University Medical Centre, 2300 RC Leiden, The Netherlands; Henry Wellcome Laboratories of Structural Biology (P.J.W., L.F., J.W.R.S.), Department of Molecular and Cell Biology, University of Leicester, Leicester LE1 7RH, United Kingdom; and Department of Paediatric Endocrinology (E.L.T.v.d.A.), Erasmus Medical Centre, 3000 CB Rotterdam, The Netherlands.
Erasmus University Rotterdam · NLLeiden University Medical Center · NLEmma Kinderziekenhuis · NLUniversity of Amsterdam · NL
Funding
Biotechnology and Biological Sciences Research Council BB/J009598/1Wellcome Trust 100237/Z/12/ZWellcome Trust WT100237
Abstract
contextIsolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB, and IGSF1, but its etiology often remains unexplained. We identified a missense mutation in the transducin β-like protein 1, X-linked (TBL1X) gene in three relatives diagnosed with isolated CeH. TBL1X is part of the thyroid hormone receptor-corepressor complex.
objectiveThe objectives of the study were the identification of TBL1X mutations in patients with unexplained isolated CeH, Sanger sequencing of relatives of affected individuals, and clinical and biochemical characterization; in vitro investigation of functional consequences of mutations; and mRNA expression in, and immunostaining of, human hypothalami and pituitary glands.
designThis was an observational study.
settingThe study was conducted at university medical centers. PATIENTS: Nineteen individuals with and seven without a mutation participated in the study.
main outcome measuresOutcome measures included sequencing results, clinical and biochemical characteristics of mutation carriers, and results of in vitro functional and expression studies.
resultsSanger sequencing yielded five additional mutations. All patients (n = 8; six males) were previously diagnosed with CeH (free T
conclusionsTBL1X mutations are associated with CeH and hearing loss. FT4 concentrations in mutation carriers vary from low-normal to values compatible with CeH.
Indexed as
AdolescentAdultChildFemaleHearing LossHeterozygoteHumansHypothalamusHypothyroidismInfantMaleMiddle AgedMutationPedigreePituitary GlandRNA, MessengerRNA, MessengerTBL1X protein, humanThyroxineTransducin
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