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Article

A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.

Journal of endocrinological investigation - 1 Aug 2018

Fu J, Lai F, Chen Y, Wan X, Wei G, Li Y, Xiao H, Cao X

Abstract excerpt

BACKGROUND: Carney complex (CNC) is an extremely rare, multiple endocrine neoplasia syndrome that occurs in an autosomal dominant manner. Mutations in PRKAR1A have been reported to be a common genetic cause of CNC. METHODS: In this study, we reported a Chinese pedigree of CNC that manifests mainly as spotty skin pigmentation and primary pigmented nodular adrenocortical disease. Whole blood samples of this...

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PMID: 29318463
DOI: 10.1007/s40618-017-0817-5

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