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, K. Komlósi, Jennifer Winter, Susann Schweiger, Gen Nishimura, Jürgen Spranger, Oliver Bartsch

Research output: Contribution to journalArticle

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
JournalEuropean Journal of Medical Genetics
DOIs
Publication statusAccepted/In press - Jan 1 2019

Fingerprint

Neurogenic Arthropathy
Hereditary Sensory and Autonomic Neuropathies
Heterotopic Ossification
Mutation
Genes
Hypohidrosis
Self Mutilation
Nonsense Codon
Hot Temperature
Joints
Parents
Lymphocytes
Population

Keywords

  • Charcot joints
  • CIPA
  • Heterotopic ossifications
  • HSAN-IV
  • Novel NTRK1 gene mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Heterotopic ossifications and Charcot joints : Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation. / Gucev, Zoran; Tasic, Velibor; Bogevska, Ivona; Laban, Nevenka; Saveski, Alek; Polenakovic, Momir; Plaseska-Karanfilska, Dijana; Komlósi, K.; Winter, Jennifer; Schweiger, Susann; Nishimura, Gen; Spranger, Jürgen; Bartsch, Oliver.

In: European Journal of Medical Genetics, 01.01.2019.

Research output: Contribution to journalArticle

Gucev, Z, Tasic, V, Bogevska, I, Laban, N, Saveski, A, Polenakovic, M, Plaseska-Karanfilska, D, Komlósi, K, Winter, J, Schweiger, S, Nishimura, G, Spranger, J & Bartsch, O 2019, 'Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation', European Journal of Medical Genetics. https://doi.org/10.1016/j.ejmg.2019.01.003
Gucev, Zoran ; Tasic, Velibor ; Bogevska, Ivona ; Laban, Nevenka ; Saveski, Alek ; Polenakovic, Momir ; Plaseska-Karanfilska, Dijana ; Komlósi, K. ; Winter, Jennifer ; Schweiger, Susann ; Nishimura, Gen ; Spranger, Jürgen ; Bartsch, Oliver. / Heterotopic ossifications and Charcot joints : Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation. In: European Journal of Medical Genetics. 2019.
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