Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome

Noralane M. Lindor, James Bristow

Research output: Contribution to journalArticle

47 Scopus citations

Abstract

We present two unrelated individuals with complete deficiency of tenascin-X, resulting in an autosomal recessive form of Ehlers-Danlos syndrome (EDS). Consistent with the original description of tenascin-X deficiency, these individuals had marked skin hyperextensibility, easy bruising, and joint laxity. Unlike classical EDS they did not have atrophic scarring or poor wound healing. Significant medical problems occurring in these individuals included severe diverticular intestinal disease, mitral valve prolapse requiring valve replacement, and obstructive airway disease.

Original languageEnglish (US)
Pages (from-to)75-80
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume135 A
Issue number1
DOIs
StatePublished - May 15 2005

Keywords

  • Cutis laxa
  • Diverticular disease
  • Ehlers-Danlos syndrome
  • Mitral valve
  • Obstructive airway disease
  • Tenascin-X

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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