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Eur J Med Genet. 2019 Jan 21. pii: S1769-7212(18)30561-5. doi: 10.1016/j.ejmg.2019.01.003. [Epub ahead of print]

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

Author information

1
Medical Faculty, Skopje, Macedonia. Electronic address: gucevz@gmail.com.
2
Medical Faculty, Skopje, Macedonia.
3
Macedonian Academy of Sciences and Arts, Skopje, Macedonia.
4
Institute of Human Genetics, Medical Center of the Johannes Gutenberg University Mainz, University of Mainz, Germany.
5
Intractable Disease Center, Saitama Medical University Hospital, Saitama, Japan.
6
Children`s Hospital, University of Mainz, Germany.

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.

KEYWORDS:

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

PMID:
30677517
DOI:
10.1016/j.ejmg.2019.01.003

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