Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.

doi:10.1530/EJE-14-1154

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Article

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.

European journal of endocrinology - 1 Jun 2015

Lodish Maya B, Yuan Bo, Levy Isaac, Braunstein Glenn D, Lyssikatos Charalampos, Salpea Paraskevi, Szarek Eva, Karageorgiadis Alexander S, Belyavskaya Elena, Raygada Margarita, Faucz Fabio Rueda, Izzat Louise, Brain Caroline, Gardner James, Quezado Martha, Carney J Aidan, Lupski James R, Stratakis Constantine A

Abstract excerpt

OBJECTIVE: We have recently reported five patients with bilateral adrenocortical hyperplasia (BAH) and Cushing's syndrome (CS) caused by constitutive activation of the catalytic subunit of protein kinase A (PRKACA). By doing new in-depth analysis of their cytogenetic abnormality, we attempted a better genotype-phenotype correlation of their PRKACA amplification. DESIGN: This study is a case series. METHODS:...

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Identifiers

PMID: 25924874
DOI: 10.1530/EJE-14-1154
PMCID: PMC4428149

Genes

PRKACA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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