Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli- Bedouins: Genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies

Sharon Shatzky, Shimon Moses, Jacov Levy, Vered Pinsk, Eli Hershkovitz, Laura Herzog, Zamir Shorer, Anthony Luder, Ruti Parvari

Research output: Contribution to journalArticlepeer-review

107 Scopus citations

Abstract

Congenital insensitivity to pain with anhidrosis (CIPA), a rare and severe disorder, comprises absence of sensation to noxious stimuli, inability to sweat, and recurrent episodes of hyperthermia. It has a relatively high prevalence in the consanguineous Israeli-Bedouins. Clinical studies of 28 patients are reported here. Using the linkage analysis approach, we linked the disease in 9 of 10 unrelated Israeli-Bedouin families with CIPA to the TrkA gene, which encodes the receptor for nerve growth factor. In one family, linkage was excluded, implying that another gene, yet unidentified, is involved. Two new mutations in the tyrosine kinase domain of the TrkA gene were identified in our CIPA patients: a 1926-ins-T in most of the southern Israeli-Negev CIPA patients, and a Pro- 689-Leu mutation in a different isolate of Bedouins in northern Israel. Eight prenatal diagnoses were made in the southern Israeli-Negev Bedouins, two by linkage analysis and six by checking directly for the 1926-ins-T mutation. Three polymorphisms in the TrkA protein kinaseencoding domain were also observed. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)353-360
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume92
Issue number5
DOIs
StatePublished - 19 Jun 2000
Externally publishedYes

Keywords

  • Bedouins
  • Congenital insensitivity to pain with anhidrosis
  • Genetic heterogeneity
  • Linkage analysis
  • Prenatal diagnosis
  • TrkA mutations

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