Congenital heart defects and ectodermal dysplasia

Definition:

Congenital heart defects and ectodermal dysplasia (CHDED) is one of the syndromic congenital heart defects. Patients have extra-cardiac manifestations, including severe developmental delay, ectodermal (dry skin, teeth and nail defects) and limb abnormalities. CHDED individuals with de novo missense mutations in PRKD1 have been identified. PRKD1 encodes a serine/threonine protein kinase that regulates diverse cellular functions.

References:

[1]. Alejandro Sifrim, et al. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nat Genet. 2016 Sep;48(9):1060-5. [Content Brief]

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