Figure 5.

Identification of four rare PLOD3 variants in fetal ICH cases.A, genealogical trees of the three families with PLOD3 variants. Square = male, circle = female, triangle = pregnancy not carried to term, black filled symbol = affected individual, empty symbol = clinically healthy relative, diagonal black line = deceased fetuses, and syringe symbol = blood sampled individual. The age of termination of pregnancy is indicated under each case. B, the crystal structure of the LH3 shows three different domains: catalytic glycosyltransferase domain (white), accessory glycosyltransferase domain (gray), and lysine dioxygenase domain (light blue). Missense variants identified in humans are indicated in different colors on the LH3 crystal structure. Green indicates previously reported variants have connective disorders resembling Stickler syndrome-like and epidermolysis bullosa. Magenta indicates variants identified in this study. ICH, intracerebral hemorrhage; LH3, lysyl hydroxylase 3.