Table 1

Details of CDKNIC gene mutations and non-coding sequence variants detected in sporadic (S1-S4) and familial (F1-F2) cases. Genomic sequence is numbered as in Genbank Accession noD64137, with the CDKN1C coding sequence starting at nucleotide 1261

Patient IDNucleotide positionNucleotide changeCodon NoAmino acid changeProtein domainParental origin
Coding sequence changes
 S11435C→T70Proline→leucineINew mutation
 F2172616 bp Δ167FrameshiftI/IIMother
 F32611C→GSplice site mutationIIIMother
Non-coding sequence changes