Additional Supporting Information may be found in the online version of this article.


Fig. S1. Pipeline for the detection of novel de novo mutations.

This pipeline was used to identify pathogenic mutations of Kenny–Caffey syndrome type 2. All genetic variants detected by exome sequencing were sequentially filtered through the pipeline described in the Methods section. BWA: Burrows-Wheeler Aligner.


Table S1. Clinical characteristics of four unrelated Japanese patients with sporadic Kenny-Caffey syndrome type 2 (KCS2).

Table S2: Statistics of exome sequencing experiments in this study.

Table S3. Primers and PCR conditions used to amplify the coding region of TBCE and FAM111A.

Table S4. The results of filtering for detecting candidate genes for KCS2.

Please note: Wiley Blackwell 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.