Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation

Helen L Storr, Louise A Metherell, Renuka Dias, Martin O Savage, Åse Krogh Rasmussen, Adrian J L Clark, Katharina M Main

7 Citationer (Scopus)

Abstract

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.
OriginalsprogEngelsk
TidsskriftHormone research in paediatrics
Vol/bind73
Udgave nummer2
Sider (fra-til)115-9
Antal sider5
DOI
StatusUdgivet - 1 jan. 2010

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