title: Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.
abstract: 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.
  
  
  
  We have ascertained five adult patients and report their clinical features.
  
  
  
  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.
  
  
  
  PRDM12-CIP is a distinct and diagnosable disorder, and requires specific clinical management to minimise predictable complications.
authors.affiliation: School of Clinical Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK.
authors.forename: Stella
authors.initials: S
authors.lastname: Zhang
authors.affiliation: The Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
authors.forename: Saghira
authors.initials: S
authors.lastname: Malik Sharif
authors.affiliation: Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Wellcome Trust, Cambridge, UK.
authors.forename: Ya-Chun
authors.initials: YC
authors.lastname: Chen
authors.affiliation: Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Italy.
authors.forename: Enza-Maria
authors.initials: EM
authors.lastname: Valente
authors.affiliation: The Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
authors.forename: Mushtaq
authors.initials: M
authors.lastname: Ahmed
authors.affiliation: The Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
authors.forename: Eamonn
authors.initials: E
authors.lastname: Sheridan
authors.affiliation: The Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
authors.forename: Christopher
authors.initials: C
authors.lastname: Bennett
authors.affiliation: School of Clinical Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Wellcome Trust, Cambridge, UK.
authors.forename: Geoffrey
authors.initials: G
authors.lastname: Woods
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010146:Pain / Q000000981:diagnostic imaging* / Q000235:genetics*; D000699:Pain Insensitivity, Congenital / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; D009419:Nerve Tissue Proteins; C587499:Prdm12 protein, human
keywords: charcot's joints; insensitivity to pain; keratitis; neuropathy; staphylococcus