TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability

Gali Heimer, Danit Oz-Levi, Eran Eyal, Shimon Edvardson, Andreea Nissenkorn, Elizabeth K. Ruzzo, Amir Szeinberg, Channa Maayan, Meir Mai-Zahav, Ori Efrati, Elon Pras, Haike Reznik-Wolf, Doron Lancet, David B. Goldstein, Yair Anikster, Stavit A. Shalev, Orly Elpeleg, Bruria Ben Zeev

Research output: Contribution to journalArticlepeer-review

Abstract

Background TECPR2 was first described as a disease causing gene when the c.3416delT frameshift mutation was found in five Jewish Bukharian patients with similar features. It was suggested to constitute a new subtype of complex hereditary spastic paraparesis (SPG49). Results We report here 3 additional patients from unrelated non-Bukharian families, harboring two novel mutations (c.1319delT, c.C566T) in this gene. Accumulating clinical data clarifies that in addition to intellectual disability and evolving spasticity the main disabling feature of this unique disorder is autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events. Conclusion We suggest that the disease should therefore be classified as a new subtype of hereditary sensory-autonomic neuropathy. The discovery of additional mutations in non-Bukharian patients implies that this disease might be more common than previously appreciated and should therefore be considered in undiagnosed cases of intellectual disability with autonomic features and respiratory symptoms regardless of demographic origin.

Original languageEnglish
Pages (from-to)69-79
Number of pages11
JournalEuropean Journal of Paediatric Neurology
Volume20
Issue number1
DOIs
StatePublished - 1 Jan 2016
Externally publishedYes

Keywords

  • Autophagy
  • HSAN III
  • Hereditary spastic paraparesis
  • IKBKAP
  • Jewish Ashkenazi
  • TECPR2

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