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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessOsteochondromas

Summary

Short information

Comprehensive differential diagnostic panel for Exostoses, multiple [today: Hereditary multiple osteochondromas] comprising 4 curated genes according to the clinical signs

ID
EP4456
Number of genes
4 Accredited laboratory test
Examined sequence length
6,2 kb (Core-/Core-canditate-Genes)
7,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
EXT12241NM_000127.3AD
EXT22157NM_207122.2AD
PTPN111782NM_002834.5AD
IDH11245NM_005896.4AD

Informations about the disease

Clinical Comment

In hereditary multiple osteochondromatoses, patients develop multiple benign osteochondromas whose number and location vary widely. These osteochondromas are not yet present in the newborn, but almost all affected individuals develop multiple exostoses by the age of 12 years. Osteochondromas grow at the end of the long bones, on the scapula, and the hip bones. Osteochondromas can interfere with normal bone growth, resulting in short stature and arms and legs that may vary in length and may be curved. Multiple osteochondromas can also lead to chronic pain, limited joint mobility due to pressure on nerves, blood vessels, the spinal cord and the tissues surrounding the osteochondromas. Osteochondromas are usually benign, but rarely sarcomas can develop (up to 5% lifetime risk). Skeletal studies suggest that a solitary osteochondroma as a benign bone tumor is found in 1-2% in the general population. The inheritance of multiple osteochondromas is autosomal dominant, and the penetrance for EXT1/2 mutations is approximately 96% in females and complete in males. The DNA diagnostic yield is up to 90%. Therefore, an inconspicuous molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1235/

 

Synonyms
  • Alias: Hereditary multiple osteochondromas
  • Allelic: Chondrosarcoma (EXT1)
  • Allelic: Glioma, susceptibility to, somatic (IDH1)
  • Allelic: LEOPARD syndrome 1 (PTPN11)
  • Allelic: Noonan syndrome (PTPN11)
  • Allelic: Seizures, scoliosis, macrocephaly syndrome (EXT2)
  • Exostoses, multiple, type 1 (EXT1)
  • Exostoses, multiple, type 2 (EXT2)
  • Metachondromatosis (PTPN11)
  • Metaphyseal chondromatosis + D-2-hydroxyglutaric aciduria/Spondyloenchondromatosis (IDH1)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined