A Homozygous Nonsense Variant in the <scp> <i>BICC1</i> </scp> Gene Associated With Fetal Cystic Kidney Disease and Lower Limb Post‐Axial Polydactyly

The data that support the findings of this study are available from the corresponding author upon reasonable request. Figure S1. Antenatal ultrasound around 21 weeks shows an enlarged cystic right kidney (red arrow) with severely reduced amniotic fluid. Figure S2. Antenatal ultrasound shows post-axial polydactyly in the foot of the affected fetus. The white dots represent the position of each of the six digits. Figure S3. Antenatal ultrasound shows normal five digits in the hand of the affected fetus. The white dots represent the position of each of the five digits. Figure S4. Screenshot of the Integrated Genomic View of the BAM (binary alignment map) file of the whole exome sequence data for the affected fetus in the first pregnancy shows homozygous mutation chr10:g.58786929C>T in the BICC1 gene. Figure S5. Screenshot of the Integrated Genomic Views of the BAM (binary alignment map) file of the whole exome sequence data for the husband and wife show heterozygous mutation chr10:g.58786929C>T in the BICC1 gene. Figure S6. Sanger sequence chromatogram of the affected fetus (first pregnancy) (section A) shows homozygosity for the mutation chr10:g.58786929C>T in BICC1 gene, Section B and C shows heterozygosity for the same mutation in the carrier parents, section D shows homozygous wild type allele in the unaffected fetus (second pregnancy) with normal nucleotide C at the same position. Figure S7. Analysis of STRING protein database with BICC1 as keyword shows close interactions of the BICC1 gene with other cilia-controlling genes associated with cystic kidney disease namely ANKS3, ANKS4, NEK8, NPHP3, and NPHP4. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.