Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome.
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.
Lindor
Noralane M
NM
Department of Medical Genetics, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA. nlindor@mayo.edu
Bristow
James
J
D000328:Adult; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005192:Family Health; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D019063:Tenascin / Q000097:blood / Q000172:deficiency*
D019063:Tenascin; C081865:tenascin X