Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants-update 2012

European Journal of Human Genetics

Volumn 21, Issue 1, 2013, Pages 119-

  Mayer, Karin ^a   Kennerknecht, Ingo ^b   Steinmann, Beat ^c  

^a Molecular Genetics   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME; DNA STRAND; EHLERS DANLOS SYNDROME; ETHNICITY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HEALTH CARE COST; HUMAN; INHERITANCE; PREVALENCE; PRIORITY JOURNAL; ECONOMICS; FEMALE; GENETIC SCREENING; GENETICS; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY;

EHLERS-DANLOS SYNDROME; FEMALE; GENETIC TESTING; HUMANS; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY;

EID: 84871188646     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.162     Document Type: Article

References (14)

1. Steinmann B, Royce PM, Superti-Furga A: The Ehlers-Danlos syndrome; in Royce PM, Steinmann B (eds). Connective Tissue and Its Heritable Disorders. New York: Wiley-Liss, 2002, 2nd edn, pp 431-523.
2. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ: Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet 1998; 77: 31-37.
3. Malfait F, Wenstrup RJ, De Paepe A: Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med 2010; 12: 597-605.
4. Symoens S, Syx D, Malfait F et al: Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat 2012; e-pub ahead of print 13 June 2012; doi: 10.1002/humu.22137.
5. O'Connell M, Burrows NP, van Vlijmen-Willems MJ, Clark SM, Schalkwijk J: Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature. Br J Dermatol 2010; 163: 1340-1345.
6. Germain DP: Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis 2007; 19: 2-32.
7. Rohrbach M, Vandersteen A, Yiş U et al: Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis 2011; 23: 6-46.
8. Malfait F, Syx D, Vlummens P et al: Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. Hum Mutat 2010; 31: 1233-1239.
9. Colige A, Nuytinck L, Hausser I et al: Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. J Invest Dermatol 2004; 123: 656-663.
10. Giunta C, Elçioglu NH, Albrecht B et al: Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome-an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet 2008; 82: 1290-1305.
11. Burkitt Wright EM, Spencer HL, Daly SB et al: Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet 2011; 88: 767-777.
12. Baumann M, Giunta C, Krabichler B et al: Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet 2012; 90: 201-216.
13. Ong KT, Perdu J, De Backer J et al: Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet 2010; 376: 1476-1484.
14. Lum YW, Brooke BS, Black JH: 3rd. Contemporary management of vascular Ehlers-Danlos syndrome. Curr Opin Cardiol 2011; 26: 494-501.