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The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

dc.rights.licenseopenen_US
dc.contributor.authorLEVAILLANT, Lucie
dc.contributor.authorBOUHOURS-NOUET, Natacha
dc.contributor.authorILLOUZ, Frederic
dc.contributor.authorAMSELLEM JAGER, Jessica
dc.contributor.authorBACHELOT, Anne
dc.contributor.authorBARAT, Pascal
dc.contributor.authorBARON, Sabine
dc.contributor.authorBENSIGNOR, Candace
dc.contributor.authorBRAC DE LA PERRIERE, Aude
dc.contributor.authorBRAIK DJELLAS, Yasmine
dc.contributor.authorCAILLOT, Morgane
dc.contributor.authorCALDAGUES, Emmanuelle
dc.contributor.authorCAMPAS, Marie-Neige
dc.contributor.authorCAQUARD, Marylène
dc.contributor.authorCARTAULT, Audrey
dc.contributor.authorCHEIGNON, Julie
dc.contributor.authorDECREQUY, Anne
dc.contributor.authorDELEMER, Brigitte
dc.contributor.authorDIECKMANN, Katherine
dc.contributor.authorDONZEAU, Aurélie
dc.contributor.authorDOYE, Emilie
dc.contributor.authorFRADIN, Mélanie
dc.contributor.authorGAUDILLIÈRE, Mélanie
dc.contributor.authorGATELAIS, Frédérique
dc.contributor.authorGORCE, Magali
dc.contributor.authorHAZART, Isabelle
dc.contributor.authorHOUCINAT, Nada
dc.contributor.authorHOUDON, Laure
dc.contributor.authorISTER-SALOME, Marielle
dc.contributor.authorJOZWIAK, Lucie
dc.contributor.authorJEANNOEL, Patrick
dc.contributor.authorLABARTHE, Francois
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.contributor.authorLAMBERT, Anne-Sophie
dc.contributor.authorLEFEVRE, Christine
dc.contributor.authorLEHEUP, Bruno
dc.contributor.authorLEROY, Clara
dc.contributor.authorMAISONNEUVE, Benedicte
dc.contributor.authorMARCHAND, Isis
dc.contributor.authorMARQUANT, Emeline
dc.contributor.authorMUSZLAK, Matthias
dc.contributor.authorPANTALONE, Letitia
dc.contributor.authorPOCHELU, Sandra
dc.contributor.authorQUELIN, Chloe
dc.contributor.authorRADET, Catherine
dc.contributor.authorRENOULT-PIERRE, Peggy
dc.contributor.authorREYNAUD, Rachel
dc.contributor.authorROULEAU, Stéphanie
dc.contributor.authorTEINTURIER, Cécile
dc.contributor.authorTHEVENON, Julien
dc.contributor.authorTURLOTTE, Caroline
dc.contributor.authorVALLE, Aline
dc.contributor.authorVIERGE, Melody
dc.contributor.authorVILLANUEVA, Carine
dc.contributor.authorZIEGLER, Alban
dc.contributor.authorDIEU, Xavier
dc.contributor.authorBOUZAMONDO, Nathalie
dc.contributor.authorRODIEN, Patrice
dc.contributor.authorPRUNIER-MIREBEAU, Delphine
dc.contributor.authorCOUTANT, Regis
dc.date.accessioned2024-02-12T12:14:20Z
dc.date.available2024-02-12T12:14:20Z
dc.date.issued2023-03-08
dc.identifier.issn1945-7197en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/188047
dc.description.abstractEnCongenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely between studies. We hypothesized that the molecular yield of targeted NGS would depend on the severity of CH. Targeted NGS was performed in 103 CH-GIS patients from the French national screening program referred to the Reference Center for Rare Thyroid Diseases of Angers University Hospital. The custom targeted NGS panel contained 48 genes. Cases were classified as solved or probably solved depending on the known inheritance of the gene, the classification of the variants according to the American College of Medical Genetics and Genomics, the familial segregation, and published functional studies. Thyroid-stimulating hormone at CH screening and at diagnosis (TSHsc and TSHdg) and free T4 at diagnosis (FT4dg) were recorded. NGS identified 95 variants in 10 genes in 73 of the 103 patients, resulting in 25 solved cases and 18 probably solved cases. They were mainly due to mutations in the TG (n = 20) and TPO (n = 15) genes. The molecular yield was, respectively, 73% and 25% if TSHsc was ≥ and 5 pmol/L. NGS in patients with CH-GIS in France found a molecular explanation in 42% of the cases, increasing to 70% when TSHsc was ≥ 80 mUI/L or FT4dg was ≤ 5 pmol/L.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.subjectCongenital hypothyroidism
dc.subjectGland-in-situ
dc.subjectMolecular yield
dc.subjectNext-generation sequencing
dc.subjectSeverity
dc.title.enThe Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
dc.title.alternativeJ Clin Endocrinol Metaben_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1210/clinem/dgad119en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed36884306en_US
bordeaux.journalJournal of Clinical Endocrinology and Metabolismen_US
bordeaux.pagee779-e788en_US
bordeaux.volume108en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue9en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04452836
hal.version1
hal.date.transferred2024-02-12T12:14:31Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccCC BY-NCen_US
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