Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis


We are grateful to the patients and their relatives for their cooperation. This work was partially supported by the Telethon Foundation (grant GGP12178 to CS); by PRIN Project (20102M7T8X_003 to AV); by Giovani Ricercatori from Ministero della Salute (grant GR-2011-02348266 to CS); by Ricerca Finalizzata from Ministero della salute (RF-2009-1499,542 to AV); by the European Community’s Seventh Framework Program (FP7/2007-2013, SYBIL Project to AV and WVH); by PNR-CNR Aging Program 2012–2014 to PV and AV; by the Leenaards Foundation Lausanne and the Swiss National Foundation to AS-F; by the National Institutes of Health USA (R01 AR065407-01 to HCB), and by the Department of Veteran’s Affairs USA (BX002490-01 to HCB); by the Research Foundation-Flanders (FWO grant G.0197.12N to WVH); and by a TOP grant to WVH. EB holds a postdoctoral fellowship of the Research Foundation-Flanders.

Author’s roles: Molecular studies: EP, AP, and DS. Patient evaluation: ASF, FF, AN, MCF, and GG. Laboratory investigation: MM and AM. Exome sequencing and bioinformatics analysis: AA, GC, MO, and PU. Histological analysis: HCB and IT. Luciferase assay on LPR5: WVH and EB. Study design: PV, AV, and CS. Drafting manuscript and revising manuscript content: all authors.