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GENATLAS PHENOTYPE
last update : 23-08-2010
Symbol ATSG1
Location 3p14.3
Name atelosteogenesis type I
Other name(s)
  • condylohumerofemoral hypoplasia
  • giant cell chondrodysplasia
    • Corresponding gene FLNB
    Other symbol(s) AOI
    Main clinical features
  • giant chondrocytes on histologic examination of bone, severe laryngeal stenosis and lethal outcome, joint dislocations and radiological short, distally tapering humeri, absent or hypoplastic fibulae, deficient vertebral ossification with coronal clefting, and anarchic ossification of phalanges
    • Genetic determination autosomal dominant
    Related entries including Boomerang dysplasia (OMIM112310)
    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)