This website provides information on individuals with mutations in the SMARCB1 gene and Intellectual Developmental Disorders, including clinical data, molecular data, management and research options.
The syndrome is most frequently caused by mutations in the SMARCB1 gene. Coffin-Siris Syndrome (MIM #614608), is a multisystem disorder characterized by infant hypotonia, developmental delay, intellectual disability, coarse craniofacial features, sparse hair, digital anomalies, feeding difficulties and congenital anomalies. Not all individuals with a mutation in the SMARCB1 gene have these features. Some individuals with a mutation in the SMARCB1 gene have intellectual disability without a diagnosis of Coffin-Siris Syndrome because they lack the typical physical features.
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 Intellectual Developmental Disorders and mutations in the SMARCB1 gene.
Mutations in SMARCB1 (loss of function) can also cause tumour predisposition syndromes (Rhabdoid tumour predisposition syndrome (MIM #609322) and susceptibility to Schwannomatosis (MIM #162091)), which are not addressed in this website.
Emma Clement, MBChB, BSc, MRCPCH, MD(Res), Consultant in Clinical Genetics and Genomic Medicine, Great Ormond Street Hospital NHS Trust, London, UK, Emma.Clement@gosh.nhs.uk
Cristina Dias, MD, PhD, Consultant in Clinical Genetics and Genomic Medicine, Great Ormond Street Hospital NHS Trust, Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, King's College London, The Francis Crick Institute, London, UK, email@example.com