This website provides information on patients with gain-of-function (GoF) variants in the SPOP gene, including clinical data, molecular data, management and research options.
Gain-of-function (GoF) variants cause the Nabais Sa-de Vries syndrome type 1 (NSDVS1; MIM#618828), whereas Nabais Sa-de Vries syndrome type 2 (NSDVS2; MIM#618829) is caused by loss-of-function (LoF) variants that result in a dominant-negative effect toward BET proteins and possibly other SPOP substrates (NSDVS2; MIM#618829: see LoF website)
The Nabais Sa-de Vries syndrome type 1 is characterized by global developmental delay apparent from infancy, variable behavioural abnormalities, microcephaly, and recognisable dysmorphic facial 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 GoF mutations in the SPOP gene.
Clinicians who identify a patient with a GoF variant in SPOP are invited to submit this information to the database.
Bert B.A. de Vries, MD, PhD, Departement of Human Genetics, Radboudumc, Nijmegen, The Netherlands, Bert.deVries@Radboudumc.nl.
Maria J. Nabais Sá, MD, MPH, PhD, Centre for Predictive and Preventive Genetics (CGPP), Institute for Molecular and Cell Biology (IBMC), UnIGENe, i3S - Institute for Research and Innovation in Health (i3S), University of Porto, Porto, Portugal, firstname.lastname@example.org.
Jean-Philippe P. Theurillat, MD, Functional Cancer Genomics, Institute of Oncology Research, Università della Svizzera italiana (USI), Bellinzona, Switzerland, email@example.com.