Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Giorgia Di LorenzoLena M WestermannTimur A YorganJulian StürznickelNataniel F LudwigLuise S AmmerAnke BaranowskyShiva AhmadiElham PourbarkhordariesfandabadiSandra R BreyerTim N BoardAnne FosterJean MercerKaren TyleeRenata Voltolini VelhoMichaela SchweizerThomas RennéThomas BraulkeDévora N RandonFernanda Sperb-LudwigLouise Lapagesse de Camargo PintoCarolina Araujo MorenoDenise P CavalcantiMichael AmlingKerstin KutscheDominic WinterNicole M MuscholIda V D SchwartzTim RolvienTatyana DanyukovaThorsten SchinkeSandra PohlPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
The gene-specific impact on bone remodeling in human individuals and in mice proposes distinct molecular functions of the GlcNAc-1-phosphotransferase subunits in bone cells. We therefore appeal for the necessity to classify MLIII based on genetic in addition to clinical criteria to ensure appropriate therapy.