Journal article

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

F-Nora Voegtle, Bjorn Braendl, Austin Larson, Manuela Pendziwiat, Marisa W Friederich, Susan M White, Alice Basinger, Cansu Kuecuekkoese, Hiltrud Muhle, Johanna A Jaehn, Oliver Keminer, Katherine L Helbig, Carolyn F Delto, Lisa Myketin, Dirk Mossmann, Nils Burger, Noriko Miyake, Audrey Burnett, Andreas van Baalen, Mark A Lovell Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2018


Awarded by German Research Foundation within EuroEPINOMICS framework of the European Science Foundation

Awarded by German Research Foundation (DFG)

Awarded by BMBF

Awarded by Deutsche Forschungsgemeinschaft (DFG)

Awarded by Excellence Initiative of the German Federal & State Governments Schleswig-Holstein Cluster of Excellence

Funding Acknowledgements

We would like to thank all affected individuals and their family members for their participation in this study. Furthermore, we would like to thank Dr. Almuth Caliebe for her clinical care of one of the affected families. We thank Dr. Chris Meisinger for discussion, Dr. Elizabeth Craig for Jac1 antiserum, and Corina Mitchell and Jon Roberts for pathology work. The current study has been supported by the EuroEPINOMICS-Rare Epilepsy Syndrome (RES) consortium which provided capacity for exome sequencing. This work was supported by intramural funds of the University of Kiel (I.H.), the German Research Foundation (HE5415/3-1 to I.H.) within the EuroEPINOMICS framework of the European Science Foundation, the German Research Foundation (DFG, HE5415/5-1, HE5415/6-1 to I.H.), the BMBF (13GW0128A and 01GM1513D) (to B.B. and F.-J.M.), the Deutsche Forschungsgemeinschaft (DFG, MU3231/3-1 to F.-J.M.), the Excellence Initiative of the German Federal & State Governments Schleswig-Holstein Cluster of Excellence (EXC 306 Inflammation at Interfaces), the Emmy Noether-Programm of the Deutsche Forschungsgemeinschaft (to F.-N.V.), a grant for Research on Measures for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development (to N. Matsumoto), and Grants-in-Aid for Scientific Research (A and B) from the Japan Society for the Promotion of Science (to N. Miyake and N. Matsuomto). This work also received financial support from Miracles for Mito, Summits for Samantha, and the Children's Hospital Colorado Foundation (J.L.K.V.H., A.L., and M.W.F.). Work included in this study has also been performed in partial fulfillment of the requirements for the doctoral thesis of C.K. In addition, D.N.S. is a full-time employee of Ambry Genetics. Exome sequencing is one of Ambry's commercially available tests.