Article
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.
Human molecular genetics - 15 Jun 2017
Zou Yaqun, Donkervoort Sandra, Salo Antti M, Foley A Reghan, Barnes Aileen M, Hu Ying, Makareeva Elena, Leach Meganne E, Mohassel Payam, Dastgir Jahannaz, Deardorff Matthew A, Cohn Ronald D, DiNonno Wendy O, Malfait Fransiska, Lek Monkol, Leikin Sergey, Marini Joan C, Myllyharju Johanna, Bönnemann Carsten G
Abstract excerpt
Collagen prolyl 4-hydroxylases (C-P4Hs) play a central role in the formation and stabilization of the triple helical domain of collagens. P4HA1 encodes the catalytic α(I) subunit of the main C-P4H isoenzyme (C-P4H-I). We now report human bi-allelic P4HA1 mutations in a family with a congenital-onset disorder of connective tissue, manifesting as early-onset joint hypermobility, joint contractures, muscle weakness...
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