Figure 4.

Mutational analysis of PRKAR1α in Carney complex families YA, YB, and YF. Automated sequence analyses of wild-type and mutant exons 7, 8, and 5 amplified from normal and affected individuals in families YA, YB, and YF, respectively, are shown. Sequence of the sense strand is shown for family YA, and the antisense strand for families YB and YF. A heterozygous 1-bp deletion is noted in family YA, and 2-bp deletions in families YB and YF (arrows; deleted bases are underlined). These mutations all result in a frameshift with consequent premature stop codons.