Communicated by Segolène Ayme
Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP
Article first published online: 16 OCT 2012
© 2012 Wiley Periodicals, Inc.
Volume 34, Issue 1, pages 88–92, January 2013
How to Cite
Goff, C. L., Mahaut, C., Bottani, A., Doray, B., Goldenberg, A., Moncla, A., Odent, S., Nitschke, P., Munnich, A., Faivre, L. and Cormier-Daire, V. (2013), Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP. Hum. Mutat., 34: 88–92. doi: 10.1002/humu.22216
- Issue published online: 20 DEC 2012
- Article first published online: 16 OCT 2012
- Accepted manuscript online: 10 SEP 2012 08:47AM EST
- Manuscript Accepted: 27 AUG 2012
- Manuscript Received: 7 MAY 2012
- Floating-Harbor syndrome;
- genetic heterogeneity
Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, delayed bone age, speech delay, and dysmorphic facial features. We report here the molecular analysis of nine cases, fulfilling the diagnostic criteria for FHS. Using exome sequencing, we identified SRCAP as the disease gene in two cases and subsequently found SRCAP truncating mutations in 6/9 cases. All mutations occurred de novo and were located in exon 34, in accordance with the recent report of Hood et al. However, the absence of SRCAP mutations in 3/9 cases supported genetic heterogeneity of FH syndrome. Importantly, no major clinical differences were observed supporting clinical homogeneity in this series of FHS patients.