Page 198 - 2022_03-Haematologica-web

Letters to the Editor
*RB and AM contributed equally as co-first authors.
Correspondence:
ANNA SAVOIA - anna.savoia@burlo.trieste.it
doi:10.3324/haematol.2021.279689 Received: August 11, 2021.
Accepted: November 11, 2021. Pre-published: November 18, 2021. Disclosures: no conflicts of interest to disclose.
Contributions: RB, AM, MM and AS designed research, inter- preted data, and wrote the manuscript; EA, AMB, MF, MLB and APDA performed NGS analysis; IP, EV, FC, ABB and AP per- formed experiments; DS, LR, GR, MG, MA, AB, PG, VB, PN, AT and FF collected hematological and other clinical data. All authors critically revised the paper and approved the final version.
Acknowledgements: we thank Samuela Francescato and Giulia Bossi for their assistance in the production of the figures, and Dr. Martina Bradaschia for the language revision of the manuscript. The authors would like to acknowledge Prof. F. de Cothi and Prof. A. Dhele for the constructive discussions.
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://cittadellasperan- za.org/) and Fondazione Giacomo Ascoli Onlus (https://www.fon- dazionegiacomoascoli.it/) for their support of our scientific work.
References
1. Hinderlich S, Weidemann W, Yardeni T, Horstkorte R, Huizing M. UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE): a master regu- lator of sialic acid synthesis. Top Curr Chem. 2015;366:97-137.
2. Futterer J, Dalby A, Lowe GC, et al. Mutation in GNE is associat- ed with severe congenital thrombocytopenia. Blood. 2018;132(17):1855-1858.
3. Johnson B, Lowe GC, Futterer J, et al. Whole exome sequencing
identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. Haematologica. 2016;101(10):1170-1179.
4.Revel-Vilk S, Shai E, Turro E, et al. variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting. Blood. 2018;132(17):1851-1854.
5.Izumi R, Niihori T, Suzuki N, et al. GNE myopathy associated with congenital thrombocytopenia: a report of two siblings. Neuromuscul Disord. 2014;24(12):1068-1072.
6.Zhen C, Guo F, Fang X, Liu Y, Wang X. A family with distal myopathy with rimmed vacuoles associated with thrombocy- topenia. Neurol Sci. 2014;35(9):1479-1481.
7.Schwarzkopf M, Knobeloch KP, Rohde E, et al. Sialylation is essential for early development in mice. Proc Natl Acad Sci U S A. 2002;99(8):5267-5270.
8. Kauskot A, Pascreau T, Adam F, et al. A mutation in the gene cod- ing for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation. Haematologica. 2018;103(12):e613-e617.
9.Bongiovanni D, Santamaria G, Klug M, et al. Transcriptome analysis of reticulated platelets reveals a prothrombotic profile. Thromb Haemost. 2019;119(11):1795-1806.
10. Li X, Li Y, Lei M, et al. Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review. BMC Med Genet. 2020;21(1):224.
11. Mekchay P, Ittiwut C, Ittiwut R, et al. Whole exome sequencing for diagnosis of hereditary thrombocytopenia. Medicine (Baltimore). 2020;99(47):e23275.
12. Martinez J, Nguyen LD, Hinderlich S, et al. Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activ- ity and inhibition. J Biol Chem. 2012;287(17):13656-13665.
13.Effertz K, Hinderlich S, Reutter W. Selective loss of either the epimerase or kinase activity of UDP-N-acetylglucosamine 2- epimerase/N-acetylmannosamine kinase due to site-directed mutagenesis based on sequence alignments. J Biol Chem. 1999;274(40):28771-28778.
14.Manchev VT, Hilpert M, Berrou E, et al. A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene. Blood. 2014;124(16):2554-2563.
15. Sillers L, Van Slambrouck C, Lapping-Carr G. Neonatal thrombo- cytopenia: etiology and diagnosis. Pediatr Ann. 2015;44(7):e175- 180.
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