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 ID	Nucleotide position	Nucleotide change	Codon No	Amino acid change	Protein domain	Parental origin
Coding sequence changes
S1	1435	C→T	70	Proline→leucine	I	New mutation
S2	2739	C→T	316	Arginine→tryptophan	III	Undefined
F1	2638	C→G	282	Nonsense	III	Mother
F2	1726	16 bp Δ	167	Frameshift	I/II	Mother
F3	2611	C→G	—	Splice site mutation	III	Mother

Non-coding sequence changes
S3	1145	G→A				Mother
S4	1144	G→A				Mother