Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation
Research output: Contribution to journal › Journal article › Research
Primary pigmented nodular adrenocortical disease (PPNAD) is associated with inactivating germline protein kinase A regulatory subunit type 1-alpha (PRKAR1A) mutations and loss of heterozygosity at the 17q22-24 locus in approximately 50% patients. PRKAR1A mutations are observed in both isolated PPNAD (iPPNAD) and Carney complex (CNC). Most mutations result in a functionally null-allele and exhibit high penetrance. We genotyped members of an extended family for a novel PRKAR1A mutation and undertook detailed phenotyping for CNC in the affected individuals.
Original language | English |
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Journal | Hormone Research in Paediatrics |
Volume | 73 |
Issue number | 2 |
Pages (from-to) | 115-9 |
Number of pages | 5 |
DOIs | |
Publication status | Published - 1 Jan 2010 |
ID: 34082448