The authors declare no conflict of interest.
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families
Version of Record online: 15 JUL 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 85, Issue 5, pages 464–469, May 2014
How to Cite
Petit, F., Jourdain, A.-S., Andrieux, J., Baujat, G., Baumann, C., Beneteau, C., David, A., Faivre, L., Gaillard, D., Gilbert-Dussardier, B., Jouk, P.-S., Le Caignec, C., Loget, P., Pasquier, L., Porchet, N., Holder-Espinasse, M., Manouvrier-Hanu, S. and Escande, F. (2014), Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. Clinical Genetics, 85: 464–469. doi: 10.1111/cge.12219
- Issue online: 1 APR 2014
- Version of Record online: 15 JUL 2013
- Accepted manuscript online: 21 JUN 2013 01:24PM EST
- Manuscript Revised: 19 JUN 2013
- Manuscript Accepted: 19 JUN 2013
- Manuscript Received: 23 APR 2013
- French national clinical research program
- 17p13.3 duplication;
Split hand/foot malformation (SHFM) with long-bone deficiency (SHFLD, MIM#119100) is a rare condition characterized by SHFM associated with long-bone malformation usually involving the tibia. Previous published data reported several unrelated patients with 17p13.3 duplication and SHFLD. Recently, the minimal critical region had been reduced, suggesting that BHLHA9 copy number gains are associated with this limb defect. Here, we report on 13 new families presenting with ectrodactyly and harboring a BHLHA9 duplication.