A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.

ABSTRACT: Chronic pain is a major global public health issue causing a severe impact on both the quality of life for sufferers and the wider economy. Despite the significant clinical burden, little progress has been made in terms of therapeutic development. A unique approach to identifying new human-validated analgesic drug targets is to study rare families with inherited pain insensitivity. Here we have analysed an otherwise normal family where six affected individuals display a pain insensitive phenotype that is characterized by hyposensitivity to noxious heat and painless bone fractures. This autosomal dominant disorder is found in three generations and is not associated with a peripheral neuropathy. A novel point mutation in ZFHX2, encoding a putative transcription factor expressed in small diam

SUBMITTER: Habib AM 

PROVIDER: S-EPMC5837393 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature