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

• Published in: Journal of medical genetics Vol. 53; no. 8; pp. 533 - 535
• Main Authors: Zhang, Stella, Malik Sharif, Saghira, Chen, Ya-Chun, Valente, Enza-Maria, Ahmed, Mushtaq, Sheridan, Eamonn, Bennett, Christopher, Woods, Geoffrey
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.08.2016; BMJ Publishing Group
• Series: Short report
• Subjects: Adult; Biopsy; Carrier Proteins - genetics; Cornea; Emotions; Female; Genetic Predisposition to Disease - genetics; Genotype & phenotype; Humans; Infections; Male; Middle Aged; Mutation; Nerve Tissue Proteins - genetics; Pain; Pain - diagnostic imaging; Pain - genetics; Pain Insensitivity, Congenital - diagnosis; Pain Insensitivity, Congenital - genetics; Phenotypes; Young Adult; keratitis; neuropathy; insensitivity to pain; charcot's joints; staphylococcus
• ISSN: 0022-2593; 1468-6244
• DOI: 10.1136/jmedgenet-2015-103646

BackgroundCongenital 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.MethodsWe have ascertained five adult patients and report their clinical features.ResultsBased 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.ConclusionsPRDM12-CIP is a distinct and diagnosable disorder, and requires specific clinical management to minimise predictable complications.