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Case Reports
. 2018 Oct 25;132(17):1855-1858.
doi: 10.1182/blood-2018-04-847798. Epub 2018 Jun 25.

Mutation in GNE is associated with severe congenital thrombocytopenia

Jane Futterer  1 , Amanda Dalby  1 , Gillian C Lowe  1 , Ben Johnson  1 , Michael A Simpson  2 , Jayashree Motwani  3 , Mike Williams  3 , Steve P Watson  1 , Neil V Morgan  1 ; UK GAPP Study Group
Affiliations
Case Reports

Mutation in GNE is associated with severe congenital thrombocytopenia

Jane Futterer et al. Blood. .
No abstract available

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Conflict of interest statement

Conflict-of-interest disclosure: The authors declare no competing financial interests.

Figures

Figure 1.
Figure 1.
Identification of a homozygous missense substitution in GNE. (A) Filtering strategy of whole-exome sequencing results to identify candidate variants in patients III:3 and III:5 of the same family. (B) Segregation analysis of the exome candidates in family members where DNA was available. The 3 variants (in the genes GNE, FRMPD1, and ANKRD18A) were shared by both affected children and were located within a region of homozygosity on chromosome 9p13.3. Double lines linking parents signify first-cousin unions. (C) Linear domain organization of GNE encoding the enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase. Experimental allosteric sites are based on in vitro studies (AS), region of unknown function (UF). The approximate position of amino acid substitutions (p.G416R and p.G559R) found in the family in this study and in an independent study, respectively, are indicated and based on transcript NM_005476. del, deletion; WT, wild-type.
Figure 2.
Figure 2.
Flow cytometry and transmission electron microscopy assessment of platelet function in patients III:3 and III:5. Flow cytometry assessment of platelet function in patients III:3 and III:5 assessed on an Accuri C6 flow cytometer. (A) Platelet glycoprotein receptors. (B-C) CD62P expression (B) and fluorescent fibrinogen binding (C) following platelet stimulation by various agonists for 2 minutes. The PRP from healthy controls was diluted 1:10 with phosphate-buffered saline and served as a control range. Data for healthy volunteers are shown as mean ± 1 SD (n = 9; except for GPVI, where n = 2). (D) Transmission electron microscopy image of the platelets from patient III:5 and healthy control platelets. Arrow indicates an α-granule, and the graph shows the number of α-granules per surface area. Scale bar, 2 µm. ADP, adenosine 5′-diphosphate.
See this image and copyright information in PMC

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