Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation

Zoran Gucev, Velibor Tasic, Ivona Bogevska, Nevenka Laban, Alek Saveski, Momir Polenakovic, Dijana Plaseska-Karanfilska, Katalin Komlosi, Jennifer Winter, Susann Schweiger, Gen Nishimura, Jürgen Spranger, Oliver Bartsch

Research output: Article

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.

Original languageEnglish
Article number103613
JournalEuropean Journal of Medical Genetics
Volume63
Issue number1
DOIs
Publication statusPublished - jan. 2020

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Gucev, Z., Tasic, V., Bogevska, I., Laban, N., Saveski, A., Polenakovic, M., Plaseska-Karanfilska, D., Komlosi, K., Winter, J., Schweiger, S., Nishimura, G., Spranger, J., & Bartsch, O. (2020). Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation. European Journal of Medical Genetics, 63(1), [103613]. https://doi.org/10.1016/j.ejmg.2019.01.003