This website provides information on patients with mutations in the SNF2-related CREBBP activator protein (SRCAP) gene outside the Floating-Harbor syndrome (FLHS) hotspot region.
The condition is also referred to as Developmental Delay, Hypotonia, Muskulosketetal Defects, and Behavioral Abnormalities (DEHMBA).
The occurrence of truncating variants within exons 33 and 34 of SRCAP has been identified as the underlying genetic cause of FLHS. Individuals with a (truncating) SRCAP variant outside the FLHS-associated locus exhibit clinical features distinct from the classical FLHS phenotype. Shared clinical features, include developmental delay with or without accompanying intellectual disability, behavioral and psychiatric issues, non-specific facial characteristics, musculoskeletal complications, and hypotonia.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SRCAP gene outside the FLHS-associated locus.
David A. Koolen, MD, PhD, Clinical genetics, Radboudumc, Nijmegen, the Netherlands, email@example.com