PEDIATRICS Vol. 61 No. 6 June 1978, pp. 894-897
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agr2-Macroglobulin Deficiency in a Patient With Ehlers-Danlos Syndrome

G. Hossein Mahour M.D., M.S.(Surg)1, M. K. Song Ph.D.1, N. F. Adham M.D.1, and Heinrich Rinderknecht Ph.D.1

1 Department of Surgery, Childrens Hospital of Los Angeles, and the University of Southern California School of Medicine, Los Angeles; and the Department of Medicine, Veterans Administration Hospital-University of California-San Fernando Valley Medical Program, Sepulveda

A new genetic defect, agr2-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 agr1-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-agr2-macro-globulinemia showed a probability of 0.7 to 0.75. However, a possible link between EDS and hypo-a2-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.

Submitted on September 13, 1977
Accepted on November 15, 1977