Regular ArticleA Large Duplication in the Gene for Lysyl Hydroxylase Accounts for the Type VI Variant of Ehlers-Danlos Syndrome in Two Siblings
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2015, Current Topics in MembranesCitation Excerpt :Mammals have three lysyl hydroxylases (LH–LH3) encoded by the genes procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (PLOD) 1 to 3 (Yamauchi & Sricholpech, 2012), which are differentially expressed during development (Salo et al., 2006). LH1 deficiency causes Ehlers–Danlos syndrome (Hautala, Heikkinen, Kivirikko, & Myllyla, 1993; Pinnell, Krane, Kenzora, & Glimcher, 1972), and LH2 deficiency causes Bruck syndrome (van der Slot et al., 2003), two connective tissue disorders resembling diseases associated with type III and type I collagen mutations, respectively. LH3 deficiency in a patient resulted in a complex connective tissue disorder with features that overlap with a number of known collagen disorders (Salo et al., 2008).
Ehlers-Danlos Syndrome
2013, Emery and Rimoin's Principles and Practice of Medical Genetics
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