This website provides information on patients with mutations in the SMARCA4 gene, including clinical data, molecular data, management and research options.
A mutation in the SMARCA4 gene can cause Coffin-Siris syndrome, but can also give rise to several cancer predisposition syndromes.
Frequently identified features in Coffin-Siris syndrome are intellectual disability, feeding difficulties, coarse facial features, speech delay, small or absent fifth finger or toe nail(s) and hypertrichosis. Not all individuals with a mutation in the SMARCA4 gene have these features.
More patient data is needed to examine the phenotype of patients with an SMARCA4 mutation in more detail and to identify the consequences of these mutations with a higher precision.
The aim of this website is to collect information on patients with Coffin-Siris syndrome and/or intellectual disability.
We invite clinicians who have identified a mutation in SMARCA4 in a patient to submit their data to the database. Please contact us if you would like to add the clinical phenotype of your patient to this database.
MD,PhD Gijs Santen, Department of Clinical Genetics LUMC, Leiden, The Netherlands, G.W.E.Santen@lumc.nl