First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Matina PrapaMauro Lago-DocampoEmilia M SwietlikDavid MontaniMélanie EyriesMarc HumbertCarrie C L WelchWendy ChungRolf M F BergerHam Jan BogaardOlivier DanhaivePilar Escribano-SubíasHenning GallBarbara GirerdIgnacio Hernandez-GonzalezSimon HoldenDavid HuntSamara Ma JansenWilhelmina Kerstjens-FrederikseDavid KielyPablo LapunzinaJohn McDermottShahin MoledinaJoanna Pepke-ZabaGary J PolwarthGwen SchotteJair Tenorio-CastañoAlfred Arthur Roger ThompsonJohn WhartonStephen J WortKaryn MegyRutendo MapetaCarmen M TreacyJennifer M MartinWei LiAndrew J SwiftPaul D UptonNicholas W MorrellStefan GräfDiana Valverdenull nullPublished in: American journal of respiratory and critical care medicine (2022)
We demonstrated that TBX4 syndrome is not strictly the result of haploinsufficiency but can also be caused by gain-of-function. The pleiotropic effects of TBX4 in lung disease may be in part explained by the differential effect of pathogenic mutations located in critical protein domains. This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License 4.0 (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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