PRDM12 gene is normally switched on during the development of pain-sensing nerve cells. (wikipedia.org)
People with homozygous mutations of the PRDM12 gene experience congenital insensitivity to pain (CIP). (wikipedia.org)
10. Structural and functional annotation of PR/SET Domain (PRDM) protein family: In-silico study elaborating role of PRDM12 mutation in congenital insensitivity to pain. (nih.gov)
Phenotype1
1. Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction? (nih.gov)
SCN9A2
As these channels are likely involved in the formation and propagation of action potentials in such neurons, it is expected that a loss of function mutation in SCN9A leads to abolished nociceptive pain propagation. (wikipedia.org)
13. A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain. (nih.gov)
Nerve3
15. Haploinsufficiency of the nerve growth factor beta gene in a 1p13 deleted female child with an insensitivity to pain. (nih.gov)
16. Orthopedic aspects of familial insensitivity to pain due to a novel nerve growth factor beta mutation. (nih.gov)
Pain insensitivity in humans can be attributed to hereditary sensory and autonomic neuropathies (HSAN) of which there are five classes (HSAN I - HSAN V). The human nerve growth factor beta gene (NGFB) located on chromosome 1p13.2 has been found to cause HSAN V within individuals homozygous for a point mutation in NGFB. (nih.gov)
Gene2
Another gene implicated in human pain insensitivity is ZFHX2, which encodes zinc finger homeobox 2. (wikipedia.org)
12. Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. (nih.gov)
Mutation2
6. Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9. (nih.gov)
11. ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia. (nih.gov)