ALPHA-2-MACROGLOBULIN DEFICIENCY IN A PATIENT WITH EHLERS-DANLOS SYNDROME

  • 1 January 1978
    • journal article
    • research article
    • Vol. 61  (6) , 894-897
Abstract
A new genetic defect, .alpha.2-macroglobulin deficiency, was found in a patient with Ehlers-Danlos syndrome (EDS). Other members of the family of 5 exhibiting this abnormality were the mother and 1 sister. All members, including the patient, had normal serum albumin and .alpha.1-antitrypsin levels. The deficiency, reported here for the 1st time, appears to be inherited by an autosomal co-dominant mode. Statistical evaluation of the dihybrid crosses for independent assortment between EDS and hypo-.alpha.2-macroglobulinemia showed a probability of 0.7 to 0.75. However, a possible link between EDS and hypo-.alpha.2-macroglobulinemia is suggested since the observed ratios of 4 siblings are exactly as expected, assuming that double gene defects are linked in the mother''s genotype.

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