Key result
Four copies of PRKACB, resulting in a gain of function in the catalytic subunit beta of protein kinase A, may lead to a Carney complex phenotype.
A gain of function mutation involving four copies of PRKACB is identified as a potential genetic cause of the Carney complex phenotype.
May broaden genetic testing for Carney complex; hypothesis-generating and requires validation before clinical adoption.
The authors report that a gain of function in the catalytic subunit beta of the cyclic AMP–dependent protein kinase (protein kinase A), resulting from the presence of four copies of PRKACB (instead of the normal two), may lead to a Carney complex phenotype.
No takes yet. Share an insight, caveat, or question.
Forlino et al. (2014) studied this question. Four copies of PRKACB, resulting in a gain of function in the catalytic subunit beta of protein kinase A, may lead to a Carney complex phenotype.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: