Year: 2020
Type: Article
Title: Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation
Author: Guchev Z
Author: Tasic V
Author: Bogevska I
Author: Laban N
Author: Saveski A
Author: Polenakovic M
Author: Plaseska-Karanfilska D
Author: Komlosi K
Author: Winter J
Author: Schweiger S
Author: Nishimura G
Author: Spranger J
Author: Bartsch O
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.
Publisher: Elsevier BV
Relation: European Journal of Medical Genetics
Identifier: oai:repository.ukim.mk:20.500.12188/23596
Identifier: http://hdl.handle.net/20.500.12188/23596Identifier: 10.1016/j.ejmg.2019.01.003
Identifier: https://api.elsevier.com/content/article/PII:S1769721218305615?httpAccept=text/xmlIdentifier: https://api.elsevier.com/content/article/PII:S1769721218305615?httpAccept=text/plainIdentifier: 63
Identifier: 1
Identifier: 103613
