Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications

Classification of rare, multisystemic connective tissue disorders (CTDs) can be difficult due to overlapping features with multiple CTDs and scarcity of clinical information. We describe 3 individuals in one family with a rarely reported autosomal recessive CTD due to pathogenic variants in PLOD3 that encodes the lysyl hydroxylase 3 enzyme, important for post-translational collagen modification.  Collating all reported clinical information and tissue expression data, we compare this disorder to known CTDs. We conclude that PLOD3-related disease has a recognizable phenotype most similar to Stickler syndrome, with overlapping features of Ehlers-Danlos syndrome and epidermolysis bullosa, with important vascular and ocular complications that affected individuals should be monitored for. (By Dr. Lisa Ewans, https://jmg.bmj.com/content/early/2019/05/25/jmedgenet-2019-106019 )

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