Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation.
CIPA
Charcot joints
HSAN-IV
Heterotopic ossifications
Novel NTRK1 gene mutation
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Jan 2020
Jan 2020
Historique:
received:
21
07
2018
revised:
11
01
2019
accepted:
12
01
2019
pubmed:
25
1
2019
medline:
2
10
2020
entrez:
25
1
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 30677517
pii: S1769-7212(18)30561-5
doi: 10.1016/j.ejmg.2019.01.003
pii:
doi:
Substances chimiques
Receptor, trkA
EC 2.7.10.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103613Informations de copyright
Copyright © 2019 Elsevier Masson SAS. All rights reserved.