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Phenotypes
Short report
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain
  1. Stella Zhang1,
  2. Saghira Malik Sharif2,
  3. Ya-Chun Chen3,
  4. Enza-Maria Valente4,
  5. Mushtaq Ahmed2,
  6. Eamonn Sheridan2,
  7. Christopher Bennett2,
  8. Geoffrey Woods1,3
  1. 1School of Clinical Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK
  2. 2The Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK
  3. 3Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Wellcome Trust, Cambridge, UK
  4. 4Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Italy
  1. Correspondence to Dr Geoffrey Woods, Molecular Medicine Unit, University of Cambridge, level 4, CIMR, Addenbrooke's hospital, Cambridge CB2 0XY, UK; cw347{at}cam.ac.uk

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.

  • neuropathy
  • insensitivity to pain
  • staphylococcus
  • charcot's joints
  • keratitis

This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/

https://doi.org/10.1136/jmedgenet-2015-103646

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