The genetic basis of Floating-Harbor syndrome was first described in 2012. SRCAP is the only gene reported to have mutations in the condition and inheritance is autosomal dominant. The gene encodes the SNF2-related CREBBP activator protein; the activation of CREBBP is essential for regulations of cell growth and division.
18 mutations have been reported to date in SRCAP, all of which are within a small region of exon 34 except for two cases of a stop mutation in exon 33. One paper in the medical literature reports three individuals with clinically indistinguishable features from Floating-Harbor syndrome but an absence of mutations in SRCAP suggesting there may be some genetic heterogeneity.
Diagnostic testing through sequencing of SRCAP is available on some dwarfism spectrum panels but has mainly been on a research basis to date.