Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome

American Journal of Medical Genetics

Volumn 135 A, Issue 1, 2005, Pages 75-80

  Lindor, Noralane M ^a,d   Bristow, James ^b,c  

^a Mayo Clinic   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^d MAYO CLINIC   (United States)

Author keywords

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

Indexed keywords

TENASCIN; TENASCIN X; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DISEASE ASSOCIATION; DISEASE SEVERITY; EHLERS DANLOS SYNDROME; FEMALE; HEART VALVE REPLACEMENT; HUMAN; INTESTINE DIVERTICULOSIS; JOINT LAXITY; MALE; MITRAL VALVE PROLAPSE; OBSTRUCTIVE AIRWAY DISEASE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SKIN ATROPHY; SKIN BRUISING; SKIN SCAR; TENASCIN X DEFICIENCY; WOUND HEALING;

ADULT; EHLERS-DANLOS SYNDROME; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MIDDLE AGED; TENASCIN;

EID: 18244362337     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30671     Document Type: Article

References (7)

1. Bristow J, Tee MK, Gitelman SE, Mellon SH, Miller WL. 1993. Tenascin-X: A novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J Cell Biol 122:265-278.
2. Burch GH, Gong Y, Liu W, Dettman RW, Curry CJ, Smith L, Miller WL, Bristow J. 1997. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat Genet 17:104-108.
3. Geffrotin C, Horak V, Crechet F, Tricaud Y, Lethias C, Vincent-Naulleau S, Vielh P. 2000. Opposite regulation of tenascin-C and tenascin-X in MeLiM swine heritable cutaneous malignant melanoma. Biochim Biophys Acta 1524:196-202.
4. Matsumoto K, Takayama N, Ohnishi J, Ohnishi E, Shirayoshi Y, Nakatsuji N, Ariga H. 2001. Tumour invasion and metastasis are promoted in mice deficient in tenascin-X. Genes Cells 6:1101-1111.
5. Morel Y, Bristow J, Gitelman SE, Miller WL. 1989. Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locus. Proc Natl Acad Sci USA 86:6582-6586.
6. Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J. 2001. Arecessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med 345:1167-1175.
7. Zweers MC, Bristow J, Steijlen PM, Dean WB, Hamel BC, Otero M, Kucharekova M, Boezeman JB, Schalkwijk J. 2003. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. Am J Hum Genet 73:214-217.