This website provides information on patients with pathogenic variants in the SPOP gene that result in a dominant-negative effect, including clinical data, molecular data, management and research options.
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, whereas gain-of-function (GoF) variants cause the Nabais Sa-de Vries syndrome type 1 (NSDVS1; MIM#618828: see GoF website)
The Nabais Sa-de Vries syndrome type 2 is characterized by global developmental delay apparent from infancy, variable behavioural abnormalities, macrocephaly, cardiovascular and endocrine abnormalities 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 LoF mutations in the SPOP gene.
Clinicians who identify a patient with a LoF variant in SPOP are invited to submit this information to the database.
SPOP LoF