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GENATLAS PHENOTYPE
last update : 01-09-2020
Symbol TOLCAS
Location 19p13.12
Name Tolchin-Le Caignec syndrome
Corresponding gene SOX6
Main clinical features
  • mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes;also bony abnormalities, including osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference; rarely, additional congenital anomalies
  • milestone delays and intellectual disability, and inconstant abnormalities, including mild dysmorphism, craniosynostosis, and osteochondromas
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    osteo-articular
    psychiatry disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   haploinsufficiency  
    Remark(s)
  • SOX6 haploinsufficiency leads to a neurodevelopmental SOXopathy that often includes ADHD and abnormal skeletal and other features, and two missense variants in the HMG domain abolished the ability of SOX6 to function as a transcription factor (PMID: 32442410))