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The phenotype of the musculocontractural type of Ehlers-Danlos syndrome, 2016, Janecke et al

Discussion in ''Conditions related to ME/CFS' news and research' started by Hutan, Jun 17, 2019.

  1. Hutan

    Hutan Moderator Staff Member

    Aotearoa New Zealand
    The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations

    The musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) has been recently recognized as a clinical entity. MC-EDS represents a differential diagnosis within the congenital neuromuscular and connective tissue disorders spectrum.

    Thirty-one and three patients have been reported with MC-EDS so far with biallelic mutations identified in CHST14 and DSE, respectively, encoding two enzymes necessary for dermatan sulfate (DS) biosynthesis. We report seven additional patients with MC-EDS from four unrelated families, including the follow-up of a sib-pair originally reported with the kyphoscoliotic type of EDS in 1975.

    Brachycephaly, a characteristic facial appearance, an asthenic build, hyperextensible and bruisable skin, tapering fingers, instability of large joints, and recurrent formation of large subcutaneous hematomas are always present. Three of seven patients had mildly elevated serum creatine kinase. The oldest patient was blind due to retinal detachment at 45 years and died at 59 years from intracranial bleeding; her affected brother died at 28 years from fulminant endocarditis.

    All patients in this series harbored homozygous, predicted loss-of-function CHST14 mutations. Indeed, DS was not detectable in fibroblasts from two unrelated patients with homozygous mutations. Patient fibroblasts produced higher amounts of chondroitin sulfate, showed intracellular retention of collagen types I and III, and lacked decorin and thrombospondin fibrils compared with control. A great proportion of collagen fibrils were not integrated into fibers, and fiber bundles were dispersed into the ground substance in one patient, all of which is likely to contribute to the clinical phenotype. This report should increase awareness for MC-EDS.
    shak8, adambeyoncelowe and Binkie4 like this.
  2. Binkie4

    Binkie4 Senior Member (Voting Rights)

    Is this the new category of EDS that has been diagnosed making 14 categories in total? All except one, hEDS, have genetic markers, and I was told by a geneticist on Friday that genetic testing for hEDS is expected soon.
    I was diagnosed with hEDS last Friday, the most common type unlike the variant discussed by @Hutan , and a blood sample was taken which will eventually be used for genetic testing.

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