期刊
JOURNAL OF MEDICAL GENETICS
卷 53, 期 8, 页码 533-535出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/jmedgenet-2015-103646
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资金
- NIHR Cambridge Biomedical Research Centre [SEAG/240]
- Medical Research Council [MR/J012742/1] Funding Source: researchfish
- MRC [MR/J012742/1] Funding Source: UKRI
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.
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