A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect


Arthrogryposis is defined by reduced mobility of multiple joints and highly heterogeneous, with more than 400 genes described. Arthrogryposis can be of both dominant and recessive inheritance, and associated with other clinical features, namely orthopedic malformations, facial deformities, central nervous system (CNS) abnormalities, peripheral neuropathy or myopathy. [1] Among these genes, heterozygous missense PIEZO2 mutations have been associated with either distal Gordon Syndrome (Distal arthrogryposis (DA) type 3 or DA type 5 or Marden-Walker Syndrome (MWS) [5].


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