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Article

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1.

Journal of medical genetics - 1 Jun 2021

Alter Svenja, Zimmer Andreas David, Park Misun, Gong Jianli, Caliebe Almuth, Fölster-Holst Regina, Torrelo Antonio, Colmenero Isabel, Steinberg Susan F, Fischer Judith

Abstract excerpt

BACKGROUND: We describe two unrelated patients who display similar clinical features including telangiectasia, ectodermal dysplasia, brachydactyly and congenital heart disease. METHODS: We performed trio whole exome sequencing and functional analysis using in vitro kinase assays with recombinant proteins. RESULTS: We identified two different de novo mutations in protein kinase D1 (PRKD1, NM_002742.2): c.1774G>C,...

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Identifiers

PMID: 32817298
DOI: 10.1136/jmedgenet-2019-106564

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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