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GENATLAS PHENOTYPE
last update : 08-03-2022
Symbol KURIS
Location 3p21.2
Name Kury-Isidor syndrome (KURIS)
Corresponding gene BAP1
Main clinical features
  • mild global developmental delay apparent from infancy or early childhood with walking delayed by a few years and speech delay, often with language deficits
  • intellectual development may be mildly delayed, borderline, or even normal; most patients have behavioral problems, including autism
  • additional variable systemic features may include poor overall growth, hypotonia, distal skeletal anomalies, seizures, and nonspecific dysmorphic facial features
  • also isolated tumor predisposition syndrome (PMID: 614327)
    • Genetic determination not applicable
    Function/system disorder mental retardation
    neurology
    osteo-articular
    Type disease
    Remark(s) . missense BAP1 variants alter chromatin remodeling through abnormal histone ubiquitination and lead to transcriptional dysregulation of developmental genes (PMID: 35051358))
  • disorder caused by rare de novo germline heterozygous missense variants of BAP1, most located in the region encoding the catalytic UCH domain (PMID: 35051358))
  • different germline variants cause either an NDD (neurodevelopmental disorder) or a tumor predisposition syndrome (PMID: 35051358))