TY - JOUR T1 - Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain JF - Journal of Medical Genetics JO - J Med Genet SP - 533 LP - 535 DO - 10.1136/jmedgenet-2015-103646 VL - 53 IS - 8 AU - Stella Zhang AU - Saghira Malik Sharif AU - Ya-Chun Chen AU - Enza-Maria Valente AU - Mushtaq Ahmed AU - Eamonn Sheridan AU - Christopher Bennett AU - Geoffrey Woods Y1 - 2016/08/01 UR - http://jmg.bmj.com/content/53/8/533.abstract N2 - 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. ER -