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hrp0097lb4 | Late Breaking | ESPE2023

A novel variant in PRKAR1A at the exon-intron border leads to aberrant splicing in patients affected by carney complex.

Grosse Martin , Abicht Angela , Gebhard Christian , Grasemann Corinna , Kiewert Cordula , Unger Nicole , Weber Frank , Bierkamp-Christophersen Dirk , J Kaiser Frank , Munteanu Martin

Carney complex 1 (CNC, OMIM# 160980) is an autosomal-dominantly inherited complex tumor predisposition syndrome associated with skin pigment abnormalities and neoplasms of heart, endocrine glands and other organs. CNC is caused by heterozygous constitutional loss-of-function variants in the PRKAR1A-gene. PRKAR1A codes for the cAMP-dependent protein kinase type I-alpha regulatory subunit, an enzyme that represents an integral part of protein kinase A (PKA) tha...

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ESPE Abstracts

A novel variant in PRKAR1A at the exon-intron border leads to aberrant splicing in patients affected by carney complex.

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