Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency

Tomo Sakiyama, Akiharu Kubo, Takashi Sasaki, Taketo Yamada, Nobushige Yabe, Ken Ichi Matsumoto, Yuko Futei

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous disorder. Using a customized targeted exome-sequencing system we identified nonsense mutations in TNXB in a patient who had recurrent gastrointestinal perforation due to tissue fragility. This case highlights the utility of targeted exome sequencing for the diagnosis of congenital diseases showing genetic heterogeneity, and the importance of attention to gastrointestinal perforation in patients with tenascin-X deficient type EDS.

Original languageEnglish
Pages (from-to)511-514
Number of pages4
JournalJournal of Dermatology
Volume42
Issue number5
DOIs
Publication statusPublished - 2015 May 1

Keywords

  • Ehlers-Danlos syndrome
  • customized targeted exome sequencing
  • gastrointestinal perforation
  • next-generation sequencer
  • tenascin-X

ASJC Scopus subject areas

  • Dermatology

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