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. 2016 Aug;53(8):533-5.
doi: 10.1136/jmedgenet-2015-103646. Epub 2016 Mar 14.

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

Stella Zhang  1 , Saghira Malik Sharif  2 , Ya-Chun Chen  3 , Enza-Maria Valente  4 , Mushtaq Ahmed  2 , Eamonn Sheridan  2 , Christopher Bennett  2 , Geoffrey Woods  5
Affiliations

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

Stella Zhang et al. J Med Genet. 2016 Aug.

Abstract

Background: Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors. PRDM12 has recently been identified as a new gene that can cause CIP. The full phenotype and natural history have not yet been reported.

Methods: We have ascertained five adult patients and report their clinical features.

Results: Based on our findings, and those of previous patients, we describe the natural history of the PRDM12-CIP disorder, and derive diagnostic and management features to guide the clinical management of patients.

Conclusions: PRDM12-CIP is a distinct and diagnosable disorder, and requires specific clinical management to minimise predictable complications.

Keywords: charcot's joints; insensitivity to pain; keratitis; neuropathy; staphylococcus.

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References

    1. Dubin AE, Patapoutian A. Nociceptors: the sensors of the pain pathway. J Clin Invest 2010;120:3760–72. 10.1172/JCI42843 - DOI - PMC - PubMed
    1. Loeser JD, Melzack R. Pain: an overview. Lancet 1999;353:1607–9. 10.1016/S0140-6736(99)01311-2 - DOI - PubMed
    1. Price TJ, Dussor G. Evolution: the advantage of ‘maladaptive’ pain plasticity. Curr Biol 2014;24:R384–6. 10.1016/j.cub.2014.04.011 - DOI - PMC - PubMed
    1. Woolf CJ, Ma Q. Nociceptors–noxious stimulus detectors. Neuron 2007;55:353–64. 10.1016/j.neuron.2007.07.016 - DOI - PubMed
    1. Willis WD, Westlund KN. Neuroanatomy of the pain system and of the pathways that modulate pain. J Clin Neurophysiol 1997;14:2–31. 10.1097/00004691-199701000-00002 - DOI - PMC - PubMed

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