Fig. 2

CDKN1C sequence variation in C19 case. In a, the pedigree of C19 is depicted and the proband is indicated by an arrow. As shown, the CDKN1C sequence variation (rs547284149) was inherited from the mother, was also present in the C19 maternal aunt but absent in her daughter who did not show omphalocele. As displayed in. b, this sequence variation determined a non-homogeneous methylation pattern, with a decrease in methylation at the fourth CpG site analyzed by pyrosequencing. The sequence variation and its maternal origin were confirmed by sanger sequencing of KCNQ1OT1:TSS-DMR: we found a heterozygous non-coding variant G > A at nucleotide 687 (NR_002728.3) (c)