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RESEARCH PRODUCT
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation
Alek SaveskiDijana Plaseska-karanfilskaSusann SchweigerGen NishimuraVelibor TasicKatalin KomlosiZoran GucevOliver BartschJennifer WinterJürgen SprangerIvona BogevskaMomir PolenakovicNevenka Labansubject
AdultPremature Stop Codonmedicine.medical_specialtyPainmedicine.disease_causeYoung AdultCongenital insensitivity to pain with anhidrosisHereditary sensory and autonomic neuropathyGeneticsmedicineHumansGenetic Predisposition to DiseaseReceptor trkAAnhidrosisGenetics (clinical)HypohidrosisMutationAdult femalebusiness.industryOssification HeterotopicGeneral MedicineEuropean populationNTRK1 Genemedicine.diseaseDermatologyFemaleArthropathy Neurogenicmedicine.symptombusinessdescription
Abstract Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe autosomal recessive disorder. We report on an adult female patient whose clinical findings during childhood were not recognized as CIPA. There was neither complete anhidrosis nor a recognizable sensitivity to heat. Tumorlike swellings of many joints and skeletal signs of Charcot neuropathy developed in adolescence which, together with a history of self-mutilation, led to a clinical suspicion of CIPA confirmed by identification of a novel homozygous variant c.1795G > T in the NTRK1 gene in blood lymphocytes. Both parents were heterozygous for the mutation. The variant predicts a premature stop codon (p.Gly599Ter) and thus represents a pathogenic variant; the first reported in the Southeastern European population.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2018-07-21 | European Journal of Medical Genetics |