A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ

[Background] Brain–lung–thyroid syndrome (BLTS) is caused by NKX2-1 haploinsufficiency, resulting in chorea/choreoathetosis, respiratory problems, and hypothyroidism. Genes interacting with NKX2-1 mutants influence its phenotypic variability. We report a novel NKX2-1 missense variant and the modifie...

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Detalles Bibliográficos
Autores: Villafuerte, Beatriz, Carrasco-López, Carlos, Herranz, Amanda, Garzón, Lucía, Simón, Rogelio, Natera-de-Benito, Daniel, Alikhani, Pouya, Tenorio, Jair, García-Santiago, Fe, Solís, Mario, Pozo, Angela del, Lapunzina, Pablo, Ortigoza-Escobar, Juan Darío, Santisteban, Pilar, Moreno, José C.
Tipo de recurso: artículo
Estado:Versión enviada para evaluación y publicación
Fecha de publicación:2024
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/370882
Acceso en línea:http://hdl.handle.net/10261/370882
Access Level:acceso abierto
Palabra clave:NKX2-1
Brain–lung–thyroid syndrome
Germline mosaicism
TAZ
WWTR1
Transcriptional rescue
Thyroid
Descripción
Sumario:[Background] Brain–lung–thyroid syndrome (BLTS) is caused by NKX2-1 haploinsufficiency, resulting in chorea/choreoathetosis, respiratory problems, and hypothyroidism. Genes interacting with NKX2-1 mutants influence its phenotypic variability. We report a novel NKX2-1 missense variant and the modifier function of TAZ/WWTR1 in BLTS.

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