PRKACB and Carney complex

We report the case of a young woman with Carney complex who presented at 19 years of age with acromegaly, pigmented spots, and myxomas. She did not have Cushing's syndrome. Treatment of her pituitary tumor arrested the acromegaly. At age 24, weight, menstrual cycles, and cortisol levels were normal. Sequencing of her DNA did not reveal PRKAR1A or PRKACA mutations. A genomewide study identified a 1.6-Mb triplication of chromosome 1p31.1, including PRKACB, which codes for catalytic subunit beta (Cβ), the second most important catalytic subunit of PKA.