A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2
Article first published online: 19 MAR 2014
© 2014 American Society for Bone and Mineral Research
Journal of Bone and Mineral Research
Volume 29, Issue 4, pages 992–998, April 2014
How to Cite
Isojima, T., Doi, K., Mitsui, J., Oda, Y., Tokuhiro, E., Yasoda, A., Yorifuji, T., Horikawa, R., Yoshimura, J., Ishiura, H., Morishita, S., Tsuji, S. and Kitanaka, S. (2014), A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2. J Bone Miner Res, 29: 992–998. doi: 10.1002/jbmr.2091
- Issue published online: 19 MAR 2014
- Article first published online: 19 MAR 2014
- Accepted manuscript online: 31 AUG 2013 06:27AM EST
- Manuscript Accepted: 27 AUG 2013
- Manuscript Revised: 21 AUG 2013
- Manuscript Received: 10 JUN 2013
- Grant-in-Aid from the Ministry of Education, Science, Sports, and Culture of Japan
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.
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