Key result
Two novel mutations in the PRKAR1A gene (c.125dupG and c.15dupT) were identified and considered to be pathogenic causes of primary pigmented nodular adrenocortical disease in two 15-year-old patients.
Case Report (n=2)
The identification of novel PRKAR1A mutations c.125dupG and c.15dupT expands the genetic understanding of primary pigmented nodular adrenocortical disease.
Should not yet change clinical management; extends PRKAR1A variant spectrum in PPNAD and leaves open validation needs.
INTRODUCTION: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-independent Cushing's syndrome (CS). Half of patients with PPNAD are sporadic cases and the other half familial. MATERIAL AND METHODS: We present two patients with PPNAD confirmed by genetic analysis. RESULTS: In both patients there were no abnormal findings on diagnostic imaging of both adrenals and heart. Patients underwent bilateral two-stage adrenalectomy. Histopathological examination confirmed PPNAD. Genetic testing showed the following mutations in the PRKAR1A gene coding for the regulatory subunit type 1A of the protein kinase A enzyme: c.125dupG (patient 1) and c.15dupT (patient 2). Both these defects lead to inactivation of the PRKAR1A protein and are consequently causative of PPNAD in these patients. CONCLUSIONS: The novel mutations presented in this article are considered to be pathogenic for PPNAD.
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Pasternak-Pietrzak et al. (2018) conducted a case report in Primary pigmented nodular adrenocortical disease (PPNAD) (n=2). PRKAR1A gene mutations (c.125dupG and c.15dupT) was evaluated on Detection of PRKAR1A gene mutations. Two novel mutations in the PRKAR1A gene (c.125dupG and c.15dupT) were identified and considered to be pathogenic causes of primary pigmented nodular adrenocortical disease in two 15-year-old patients.
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