Pathology
germline mutations in primary pigmented nodular adrenocortical disease-2 (PPNAD2) (adrenal Cushing syndrome) (MIM.610475)
PDE11A sequence defects predispose to a variety of lesions (beyond micronodular adrenocortical hyperplasia) and may contribute to the development of tumors in the general population. (18559625)
See also
primary pigmented nodular adrenocortical disease-1 (PPNAD1 (MIM.610489 by mutation in the PRKAR1A gene (MIM.188830) on chromosome 17q and often associated with Carney complex (CNC1) (MIM.160980).
References
Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. Libé R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA, Bertherat J. Clin Cancer Res. 2008 Jun 15;14(12):4016-24. PMID: 18559625
Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libe R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet. 2006 Jul;38(7):794-800. PMID: 16767104