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cge12301-sup-0001-FigureS1.docWord document356KFig. S1. Excerpt of whole-exome sequencing data visualized in the Integrative Genome Browser (www.broadinstitute.org). The deleterious mutations in Exon 9 of KIF14 are shown in a compound heterozygous state in the index patient (fetus 2), and in a heterozygous state in the mother and the father. The figure displays the reverse strand.
cge12301-sup-0002-FigureS2.docWord document242KFig. S2. Model of KIF14 protein interacting partners and pathways. STRING 9.05 (www.string-db.org) was used to create the model.
cge12301-sup-0003-TableS1.docWord document33KTable S1. Summary of whole-exome sequencing statistics.
cge12301-sup-0004-TableS2.docWord document49KTable S2. Summary of 34 genes harboring non-synonymous recessive compound heterozygous variants identified by whole-exome sequencing and initial bioinformatics analysis. KIF14 was the only gene in which truncating mutations were identified. There were no compound heterozygous mutations in a gene known to cause a ciliary disorder. (Initially, DNAH6 was also considered as a potential candidate, but review of functional aspects was not convincing. In addition, one variant was shown to have a MAF of 2.5% in the NHLBI Exome Sequencing Project (ESP, Exome Variant Server), was predicted to be benign and non-conserved and did not segregate with the phenotype.)
cge12301-sup-0005-TableS3.docWord document29KTable S3. Rare (MAF < 0.01) non-synonymous variants detected in known ciliopathy genes in the affected fetus. No truncating variants and no de novo or paternally inherited variants were found.

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