GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

Shoshana Revel-Vilk; Ela Shai; Ernest Turro; Nivin Jahshan; Esti Hi-Am; Galia Spectre; Hagit Daum; Yossef Kalish; Karina Althaus; Andreas Greinacher; Chaim Kaplinsky; Shai Izraeli; Rutendo Mapeta; Sri V V Deevi; Danuta Jarocha; Willem H Ouwehand; Kate Downes; Mortimer Poncz; David Varon; Michele P Lambert

doi:10.1182/blood-2018-04-845545

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

Blood. 2018 Oct 25;132(17):1851-1854. doi: 10.1182/blood-2018-04-845545. Epub 2018 Aug 31.

Authors

Shoshana Revel-Vilk¹, Ela Shai², Ernest Turro^{3

4

5}, Nivin Jahshan², Esti Hi-Am², Galia Spectre^{6

7}, Hagit Daum⁸, Yossef Kalish², Karina Althaus⁹, Andreas Greinacher⁹, Chaim Kaplinsky^{7

10}, Shai Izraeli^{7

11}, Rutendo Mapeta^{3

12}, Sri V V Deevi^{3

12}, Danuta Jarocha¹³, Willem H Ouwehand^{3

5

14}, Kate Downes^{3

5}, Mortimer Poncz^{13

15}, David Varon², Michele P Lambert^{13

15}

Affiliations

¹ Pediatric Hematology/Oncology Unit, Department of Pediatrics, Shaare-Zedek Medical Center, and.
² Coagulation Unit, Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
³ Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
⁴ Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom.
⁵ National Health Service Blood and Transplant, Cambridge, United Kingdom.
⁶ Department of Hematology, Belinson Hospital, Tel Aviv University, Tel Aviv, Israel.
⁷ The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
⁸ Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
⁹ Department of Immunology and Transfusion Medicine University Medicine Greifswald, Greifswald, Germany.
¹⁰ Department of Pediatric Hematology/Oncology and.
¹¹ The Genes, Development and Environment Research Institute, Tel Aviv University and Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
¹² NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
¹³ Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA.
¹⁴ Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom; and.
¹⁵ Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Adult
Child
Female
Humans
Male
Multienzyme Complexes / genetics*
Mutation, Missense
Pedigree
Thrombocytopenia / congenital*
Thrombocytopenia / genetics*
Young Adult

Substances

Multienzyme Complexes
UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase