AI Article Synopsis
- Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disorder characterized by a lack of pain sensation, reduced sweating, and other serious symptoms like self-harm and potential cognitive impairments.
- Recent research identified four new mutations in the NTRK1 gene among six Korean patients, which are linked to the development of CIPA.
- The study used various assays to show how these mutations affect NTRK1's function, suggesting that they contribute to the disease's effects and helping to deepen the understanding of CIPA's genetic basis.
Article Abstract
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, features loss of pain sensation, decreased or absent sweating (anhidrosis), recurrent episodes of unexplained fever, self-mutilating behavior, and variable mental retardation. Mutations in neurotrophic receptor tyrosine kinase 1 (NTRK1) have been reported to be associated with CIPA. We identified four novel NTRK1 mutations in six Korean patients from four unrelated families. Of the four mutations, we demonstrated using a splicing assay that IVS14+3A>T causes aberrant splicing of NTRK1 mRNA, leading to introduction of a premature termination codon. An NTRK1 autophosphorylation assay showed that c.1786G>A (p.Asp596Asn) abolished autophosphorylation of NTRK1. In addition, Western blotting showed that c.704C>G (p.Ser235*) and c.2350_2363del (p.Leu784Serfs*79) blunted NTRK1 expression to undetectable levels. The four novel NTRK1 mutations we report here will expand the repertoire of NTRK1 mutations in CIPA patients, and further our understanding of CIPA pathogenesis.
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| http://dx.doi.org/10.1111/jns.12205 | DOI Listing |
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