Cardioacrofacial dysplasia

Definition:

Cardioacrofacial dysplasia (CAFD) is a congenital malformation syndrome caused by mutations in PRKACA and PRKACB, that encode the catalytic subunits of protein kinase A. Affected individuals shared an atrioventricular septal defect or a common atrium along with postaxial polydactyly.

References:

[1]. Adrian Palencia-Campos, et al. Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. Am J Hum Genet. 2020 Nov 5;107(5):977-988. [Content Brief]

[2]. Kristoffer Søberg, et al. Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA). PLoS One. 2012;7(4):e34838. [Content Brief]

[3]. Stephanie Espiard, et al. PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A. Endocr Relat Cancer. 2020 Nov;27(11):647-656. [Content Brief]

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