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GENATLAS PHENOTYPE
last update : 23-08-2010
Symbol ATSG3
Location 3p14.3
Name atelosteogenesis type III
Corresponding gene FLNB
Other symbol(s) AOIII
Main clinical features
  • short-limbed dwarfism syndrome with manifestations overlapping those of otopalatodigital syndrome type II, particularly very short hand
    • Genetic determination autosomal dominant
    Related entries manifestations overlapping those of atelosteogenesis (108720) and otopalatodigital syndrome type II
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name filamin B
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function  
    Remark(s)
  • increased F-actin binding affinity of the mutants presents a biochemical mechanism that differentiates the autosomal dominant gain-of-function FLNB disorders from those that arise through the complete loss of FLNB protein (Sawyer 2010)