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