Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 05-06-2018
Symbol AMCD2B
Location 11p15.5
HGNC id 455
Name arthrogryposis multiplex congenita, distal, type IIB
Other name(s)
  • arthrogryposis, distal, type IIB
  • Sheldon-Hall syndrome 1
    • Corresponding gene TNNI2 , TNNT3
    Other symbol(s) FSSV, DA2B, SHHS1
    Main clinical features
  • features of the Freeman-Sheldon syndrome, craniofacial abnormalities
  • distal arthrogryposis with clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth; disorder of primary limb malformation without primary neurologic or muscle disease
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    osteo-articular
    Type disease
    Gene product
    Name . troponin I, skeletal, fast . troponin T3, skeletal, fast
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense     TNNI2 R156X, mostly frequent
    Remark(s) mutations cause increased contractility of developing fast-twitch skeletal muscles, thus causing muscle contractures and the development of the observed limb deformities (Robinson 2007)