Hereditary Multiple Exostoses (HME)

Individuals with hereditary multiple exostoses (HME) often develop benign cartilage-capped tumors (exostoses) at the ends of the long bones or the surface of flat bones. Exostoses develop prior to skeletal maturity only. Bony deformity, bowing of the long bones, limited range of motion, and premature osteoarthrosis may be associated with HME. Exostoses also may cause complications by putting pressure on nearby issues, nerves or blood vessels. A rare but severe risk in patients with multiple exostoses is the development of malignant chondrosarcoma, which occurs in 1-5% of patients. Mutations in the EXT1 gene seem to be associated with a more severe disease and higher risk of developing chondrosarcoma than EXT2 gene mutation.

Tests Available

Forms and Documents

Test Details

EXT1, EXT2, PTPN11
  • Confirmation of the clinical diagnosis
  • To differentiate between the disorders presenting with osteochondromas
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T996
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81406x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Jennes et al. (2009) Human Mutation 30 (12):1620-7 (PMID: 19810120).
  2. Signori et al. (2007) Genes, Chromosomes & Cancer 46 (5):470-7 (PMID: 17301954).
  3. Vink et al. (2005) European Journal Of Human Genetics : Ejhg 13 (4):470-4 (PMID: 15586175).
  4. Porter et al. (2004) J Bone Joint Surg Br 86 (7):1041-6 (PMID: 15446535).
  5. Bowen et al. (2011) P Lo S Genetics 7 (4):e1002050 (PMID: 21533187).
  6. Fisher et al. (2013) J Child Orthop 7 (6):455-64 (PMID: 24432109).
  7. Jennes et al. (2008) The Journal Of Molecular Diagnostics : Jmd 10 (1):85-92 (PMID: 18165274).
  8. Wuyts W, Schmale GA, Chansky HA, et al. Hereditary Multiple Osteochondromas. 2000 Aug 3 [Updated 2013 Nov 21]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  9. Pedrini et al. (2005) Human Mutation 26 (3):280 (PMID: 16088908).
  10. Wuyts et al. (2005) Clinical Genetics 68 (6):542-7 (PMID: 16283885).
  11. Heinritz et al. (2009) Annals Of Human Genetics 73 (Pt 3):283-91 (PMID: 19344451).