The autosomal recessive mode of inheritance of C1r deficiency in a large Puerto Rican family.

Abstract

All living members of three generations of a large family with C1 r deficiency were studied. The two index cases showed undetectable C1 r and partial deficiency of C1 s associated with cutaneous, renal and joint disease as described previously (Moncada et al., 1972). The quantitative C1 q, C1 r and C1 s studies on the parents and the normal siblings were consistent with an autosomal recessive mode of inheritance for the C1 r trait. There was more corrleation of the C1 r levels with the C1 s levels than with the C1 q levels, compatible with a linkage of the synthesis or catabolism of C1 s with C1 r.