GNE myopathy associated with congenital thrombocytopenia: A report of two siblings

Neuromuscular Disorders

Volumn 24, Issue 12, 2014, Pages 1068-1072

  Izumi, Rumiko ^a   Niihori, Tetsuya ^a   Suzuki, Naoki ^a   Sasahara, Yoji ^a   Rikiishi, Takeshi ^a   Nishiyama, Ayumi ^a   Nishiyama, Shuhei ^a   Endo, Kaoru ^a   Kato, Masaaki ^a   Warita, Hitoshi ^a   Konno, Hidehiko ^b   Takahashi, Toshiaki ^b   Tateyama, Maki ^a   Nagashima, Takeshi ^c   Funayama, Ryo ^c   Nakayama, Keiko ^c   Kure, Shigeo ^a   Matsubara, Yoichi ^a   Aoki, Yoko ^a   Aoki, Masashi ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b National Hospital Organization Sendai Nishitaga Hospital   (Japan)

^c TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Distal myopathy with rimmed vacuoles; Exome sequencing; GNE; Sialic acid; Thrombocytopenia; UDP N acetylglucosamine 2 epimerase N acetylmannosamine kinase

Indexed keywords

CREATINE KINASE; IMMUNOGLOBULIN G; PLATELET ASSOCIATED IMMUNOGLOBULIN G; SIALIC ACID; TETRAZOLIUM REDUCTASE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE; VON WILLEBRAND FACTOR; MULTIENZYME COMPLEX; UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE - N-ACETYLMANNOSAMINE KINASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BICEPS BRACHII MUSCLE; CARBOHYDRATE SYNTHESIS; CASE REPORT; CELL STRUCTURE; CELL VACUOLE; CHRONIC KIDNEY FAILURE; CONGENITAL THROMBOCYTOPENIA; CREATINE KINASE BLOOD LEVEL; DISEASE ASSOCIATION; DNA MICROARRAY; EPISTAXIS; FEMALE; GAIT DISORDER; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; GNE GENE; GNE MYOPATHY; HUMAN; HUMAN TISSUE; JAPANESE (PEOPLE); MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; NEUROLOGIC EXAMINATION; PHENOTYPE; RENAL REPLACEMENT THERAPY; SIBLING; SPLENOMEGALY; THROMBOCYTE COUNT; THROMBOCYTE LIFESPAN; THROMBOCYTE VOLUME; THROMBOCYTOPENIA; GENETICS; MUSCLE DISEASE; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; SKELETAL MUSCLE; THROMBOCYTE;

ADULT; BLOOD PLATELETS; FEMALE; HUMANS; MALE; MULTIENZYME COMPLEXES; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; SIBLINGS; THROMBOCYTOPENIA;

EID: 84919331259     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.07.008     Document Type: Article

References (23)

1. Stasche R., Hinderlich S., Weise C., et al. A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Molecular cloning and functional expression of UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase. J Biol Chem 1997, 272:24319-24324.
2. Argov Z., Yarom R. "Rimmed vacuole myopathy" sparing the quadriceps. A unique disorder in Iranian Jews. J Neurol Sci 1984, 64:33-43.
3. Eisenberg I., Avidan N., Potikha T., et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 2001, 29:83-87.
4. Nonaka I., Sunohara N., Ishiura S., Satoyoshi E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 1981, 51:141-155.
5. Nishino I., Noguchi S., Murayama K., et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology 2002, 59:1689-1693.
6. Tomimitsu H., Ishikawa K., Shimizu J., et al. Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene. Neurology 2002, 59:451-454.
7. Tomimitsu H., Shimizu J., Ishikawa K., et al. Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. Neurology 2004, 62:1607-1610.
8. Izumi R., Niihori T., Aoki Y., et al. Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. J Hum Genet 2013, 58:259-266.
9. Balduini C.L., Savoia A. Genetics of familial forms of thrombocytopenia. Hum Genet 2012, 131:1821-1832.
10. Nurden P., Debili N., Coupry I., et al. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. Blood 2011, 118:5928-5937.
11. Malicdan M.C., Noguchi S., Nonaka I., Hayashi Y.K., Nishino I. A GNE knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet 2007, 16:115-128.
12. Noguchi S., Keira Y., Murayama K., et al. Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem 2004, 279:11402-11407.
13. Greenberg J., Packham M.A., Cazenave J.P., Reimers H.J., Mustard J.F. Effects on platelet function of removal of platelet sialic acid by neuraminidase. Lab Invest 1975, 32:476-484.
14. Kotze H.F., van Wyk V., Badenhorst P.N., et al. Influence of platelet membrane sialic acid and platelet-associated IgG on ageing and sequestration of blood platelets in baboons. Thromb Haemost 1993, 70:676-680.
15. Sorensen A.L., Rumjantseva V., Nayeb-Hashemi S., et al. Role of sialic acid for platelet life span: exposure of beta-galactose results in the rapid clearance of platelets from the circulation by asialoglycoprotein receptor-expressing liver macrophages and hepatocytes. Blood 2009, 114:1645-1654.
16. Tribulatti M.V., Mucci J., Van Rooijen N., Leguizamon M.S., Campetella O. The trans-sialidase from Trypanosoma cruzi induces thrombocytopenia during acute Chagas' disease by reducing the platelet sialic acid contents. Infect Immun 2005, 73:201-207.
17. Watanabe Y. The mechanism of the thrombocytopenia in patients with hepatic cirrhosis. J Jpn Soc Gastroenterol 1981, 78:1216-1225. (Japanese).
18. Zhen C, Guo F, Fang X, Liu Y, Wang X. A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia. Neurol Sci 2014.
19. Kurochkina N., Yardeni T., Huizing M. Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria. Glycobiology 2010, 20:322-337.
20. Mori-Yoshimura M., Monma K., Suzuki N., et al. Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations. J Neurol Sci 2012, 318:100-105.
21. McMillan R. Autoantibodies and autoantigens in chronic immune thrombocytopenic purpura. Semin Hematol 2000, 37:239-248.
22. Ito M., Sugihara K., Asaka T., et al. Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice. PLoS One 2012, 7:e29873.
23. Galeano B., Klootwijk R., Manoli I., et al. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest 2007, 117:1585-1594.