Clinical symptoms of MED patients caused by MATN3 and COMP gene mutations

Interesting paper from the group in Korea……BMC article

The medical records and radiographs of 59 molecularly confirmed multiple epiphyseal dysplasia (MED) patients were reviewed along with questionnaire surveys or telephone interviews.

Several very interesting and important correlations were identified:-

  • There appeared to be no difference in age of onset of symptoms; 8 years for both COMP and MATN3 mutations.
  • MED patients with COMP mutations were significantly shorter.
  • Hip pain and limitation of daily activity were more frequent in MED patients with COMP mutations.
  • Clinical symptoms of MED caused by MATN3 mutations were milder that the symptoms of COMP mutations.

And importantly………

“These differences in clinical manifestation and prognosis justify molecular differentiation between the two genotypes”.

The full article can be downloaded here 1471-2474-15-84

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