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GENATLAS PHENOTYPE

last update : 07-12-2016

Symbol	DAIPT
Location	18p11.22
Name	arthrogryposis, distal, with impaired proprioception and touch
Corresponding gene	PIEZO2
Main clinical features	neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, and progressive skeletal contractures onset of symptoms in early childhood and the contractures become progressive worse with time contractures of the wrist or hands presenting as camptodactyly, arachnodactyly, or bilateral duck bill deformity of the thumb were present in the majority of affected individuals EMG and NCS showed a sensory neuropathy
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)

loss of PIEZO2 channels in dorsal root ganglia leads to dysregulation of muscle proprioceptive function and thus to impaired muscle development (PMID: 27843126))