Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

doi:10.1093/hmg/ddaa050

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Article

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Human molecular genetics - 21 Jul 2020

Alharatani Reham, Ververi Athina, Beleza-Meireles Ana, Ji Weizhen, Mis Emily, Patterson Quinten T, Griffin John N, Bhujel Nabina, Chang Caitlin A, Dixit Abhijit, Konstantino Monica, Healy Christopher, Hannan Sumayyah, Neo Natsuko, Cash Alex, Li Dong, Bhoj Elizabeth, Zackai Elaine H, Cleaver Ruth, Baralle Diana, McEntagart Meriel, Newbury-Ecob Ruth, Scott Richard, Hurst Jane A, Au Ping Yee Billie, Hosey Marie Therese, Khokha Mustafa, Marciano Denise K, Lakhani Saquib A, Liu Karen J

Abstract excerpt

CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due to advances in next-generation sequencing, CTNND1 has been implicated in human diseases including cleft palate and blepharocheilodontic (BCD) syndrome albeit only recently. In this study, we...

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Identifiers

PMID: 32196547
DOI: 10.1093/hmg/ddaa050
PMCID: PMC7372553

Genes

CTNND1

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