GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

Roberta Bottega; Antonio Marzollo; Maddalena Marinoni; Emmanouil Athanasakis; Ilaria Persico; Anna Monica Bianco; Michela Faleschini; Erica Valencic; Daniela Simoncini; Linda Rossini; Fabio Corsolini; Martina La Bianca; Giuseppe Robustelli; Maria Gabelli; Massimo Agosti; Alessandra Biffi; Paolo Grotto; Valeria Bozzi; Patrizia Noris; Alberto B Burlina; Adamo Pio D'Adamo; Alberto Tommasini; Flavio Faletra; Annalisa Pastore; Anna Savoia

doi:10.3324/haematol.2021.279689

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

Haematologica. 2022 Mar 1;107(3):750-754. doi: 10.3324/haematol.2021.279689.

Authors

Roberta Bottega¹, Antonio Marzollo², Maddalena Marinoni³, Emmanouil Athanasakis¹, Ilaria Persico⁴, Anna Monica Bianco¹, Michela Faleschini¹, Erica Valencic¹, Daniela Simoncini³, Linda Rossini⁵, Fabio Corsolini⁶, Martina La Bianca¹, Giuseppe Robustelli³, Maria Gabelli⁵, Massimo Agosti³, Alessandra Biffi⁵, Paolo Grotto⁷, Valeria Bozzi⁸, Patrizia Noris⁹, Alberto B Burlina¹⁰, Adamo Pio D'Adamo¹¹, Alberto Tommasini¹¹, Flavio Faletra¹, Annalisa Pastore¹², Anna Savoia¹³

Affiliations

¹ Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
² Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua, Italy; Fondazione Città della Speranza, Istituto di Ricerca Pediatrica, Via Ricerca Scientifica, 4, 35127, Padua.
³ Maternal and Child Department, F. Del Ponte Hospital, Varese.
⁴ Department of Medical Sciences, University of Trieste, Trieste, Italy; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Barcelona.
⁵ Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua.
⁶ LABSIEM - Laboratory for the Study of Inborn Errors of Metabolism, Pediatric Clinic and Endocrinology, Istituto Giannina Gaslini, Genova.
⁷ Pediatric Department, Hospital of Treviso - Oderzo, Treviso.
⁸ Biotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia.
⁹ Biotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; Department of Internal Medicine and Medical Therapy, University of Pavia, Pavia.
¹⁰ Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children's Health, University Hospital of Padova, Padova.
¹¹ Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste.
¹² King's College London, Dept. of Clinical Neuroscience, Denmark Hill Campus, London, United Kingdom; European Synchrotron Radiation Facility 71, Grenoble.
¹³ Istitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste. anna.savoia@burlo.trieste.it.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Diphosphate
Humans
Mutation
Thrombocytopenia* / genetics

Substances

Adenosine Diphosphate

Grants and funding

Funding: this work was supported by IRCCS Burlo Garofolo (grant numbers RC 31/17 and RC 02/18) and IRCCS Policlinico San Matteo Foundation (Intramural research grant).We thank Fondazione Città della Speranza ONLUS (http://cittadellasperanza.org/) and Fondazione Giacomo Ascoli Onlus (https://www.fondazionegiacomoascoli. it/) for their support of our scientific work.