Alpha2-macroglobulin deficiency in a patient with Ehlers-Danlos syndrome.
A new genetic defect, alpha2-macroglobulin deficiency, was found in a patient with Ehlers-Danlos syndrome (EDS). Other members of the family of five exhibiting this abnormality were the mother and one sister. All members, including the patient, had normal serum albumin and alpha1-antitrypsin levels. The deficiency, reported here for the first time, appears to be inherited by an autosomal co-dominant mode. Statistical evaluation of the dihybrid crosses for independent assortment between EDS and hypo-alpha2-macroglobulinemia showed a probability of 0.7 to 0.75. However, a possible link between EDS and hypo-alpha2-macroglobulinemia is suggested since the observed ratios of four siblings are exactly as expected, assuming that double gene defects are linked in the mother's genotype.
D000293:Adolescent; D000328:Adult; D001798:Blood Proteins / Q000378:metabolism; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004535:Ehlers-Danlos Syndrome / Q000097:blood* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014357:Trypsin / Q000378:metabolism; D000515:alpha 1-Antitrypsin / Q000378:metabolism; D000511:alpha-Macroglobulins / Q000172:deficiency*
D001798:Blood Proteins; D000515:alpha 1-Antitrypsin; D000511:alpha-Macroglobulins; D014357:Trypsin