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A step in the approach to diagnosis

Genetic testing for Carney Complex (CNC) most often starts by checking for a mutation in the PRKAR1A Gene on Chromosome 17.

More than 70% of all cases of Carney Complex documented worldwide test positive for a mutation on the PRKAR1A Gene. 30% of people with CNC-related symptoms have other genetic mutations which are unspecified or poorly researched1.

Encompassed in the 30% are:

  • Possible link to Chromosome 2
  • The association with defects of other PKA subunits, such as PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas).
  • Patients that test negative for any of the above mentioned – that might have an unknown genetic mutation – but still show clinical symptoms of CNC.

People in the 30% group are suspected to have other genetic variants that have not yet been identified.

What genetic testing is available?

There are single-gene tests and multigene panel tests.2 On very rare occasion whole-genome sequencing has been done, as mentioned with this patient‘s case.

Depending on who orders the genetic testing for you they may or may not be knowledgable of the fact that CNC is a heterogeneous disorder3;4 and only want to single-gene test for the PRKAR1A Gene .

In some cases, genetic testing can confirm a clinical diagnosis of CNC when not enough major criterion or supplemental ones are met5.

Can I still have Carney Complex if my genetic test comes back negative for mutations on the PRKAR1A Gene?

Testing negative for mutations on PRKAR1A does not completely rule out a diagnosis of CNC. Individuals who test negative for PRKAR1A, but who have clinical symptoms or findings suggestive of CNC should still be screened regularly, as CNC has no set timeline for when symptoms occur.

Regular screenings increase the likelihood of early identification of growths or tumors, and offers the best opportunity for treatment. Regular screenings can give patients some level of confidence these growths will be caught before they cause widespread symptoms, and this can give patients the confidence to lead some semblance of a normal life.

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Learn more about Carney Complex genetics here (coming soon).

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  1. Carney Complex: an update, page 6, R. Correa, P. Salpea and C. A. Stratakis []
  2. GeneReviews, Carney Complex, Constantine A Stratakis, MD, DSc and Margarita Raygada, MSc, PhD.; https://www.ncbi.nlm.nih.gov/books/NBK1286/pdf/Bookshelf_NBK1286.pdf []
  3. MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene; Lucas Bouys, Jérôme Bertherat; https://pubmed.ncbi.nlm.nih.gov/33444222/ []
  4. Genetics of micronodular adrenal hyperplasia and Carney complex; Amit Tirosh, Nuria Valdés, Constantine A Stratakis; https://pubmed.ncbi.nlm.nih.gov/30093212/ []
  5. J. Aidan Carney MD, PhD, FRCP, Emeritus Professor of Pathology, Mayo Clinic; https://rarediseases.org/rare-diseases/carney-complex/ []