The HRD/Autosomal Recessive Kenny−Caffey Syndrome Consortium: Group 1: Ruti Parvari1, Eli Hershkovitz2, Nili Grossman3, Rafael Gorodischer2, Bart Loeys4, Alexandra Zecic5, Geert Mortier4, Simon Gregory6
& Reuven Sharony7Group 2: Marios Kambouris8, Nadia Sakati8
& Brian F. Meyer8Group 3: Aida I. Al Aqeel8, 9, Abdul Karim Al Humaidan8, Fatma Al Zanhrani8, Abdulrahman Al Swaid9
& Johara Al Othman9Group 4: George A. Diaz10, 11, Rory Weiner10, K. Tahseen S. Khan12, Ronald Gordon13
& Bruce D. Gelb10, 111
Department of Developmental Molecular Genetics, Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel.
2
Department of Pediatrics, Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel.
3
Department of Skin Bank and Investigative Dermatology Laboratory and Department of Microbiology and Immunology, Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel.
4
Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium.
5
Department of Neonatology, Ghent University Hospital, Ghent, Belgium.
6
The Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
7
The Genetic Institute, Sapir Medical Center, Meir Hospital, Sackler School of Medicine, Tel Aviv University, Israel.
8
King Faisal Specialist Hospital & Research Center, Riyadh 11211, Kingdom of Saudi Arabia.
9
Department of Pediatrics, Riyadh Armed Forces Hospital, Kingdom of Saudi Arabia.
10
Department of Human Genetics, Mount Sinai School of Medicine, One Gustave Levy Place, New York, New York 10029, USA.
11
Department of Pediatrics, Mount Sinai School of Medicine, One Gustave Levy Place, New York, New York 10029, USA.
12
Department of Pediatrics, Al-Jahra Hospital, Safat, Kuwait.
13
Department of Pathology, Mount Sinai School of Medicine, New York, New York, USA.
Correspondence should be addressed to George A. Diaz george.diaz@mssm.edu
-tubulin subunits and the formation of 
-tubulin heterodimers. Analysis of diseased fibroblasts and lymphoblastoid cells showed lower microtubule density at the microtubule-organizing center (MTOC) and perturbed microtubule polarity in diseased cells. Immunofluorescence and ultrastructural studies showed disturbances in subcellular organelles that require microtubules for membrane trafficking, such as the Golgi and late endosomal compartments. These findings demonstrate that HRD and AR-KCS are chaperone diseases caused by a genetic defect in the tubulin assembly pathway, and establish a potential connection between tubulin physiology and the development of the parathyroid.
