A severe congenital neutropenia type 4 Case (G6PC3 Mutation) presented with large platelets in the peripheral smear

Journal of Pediatric Hematology/Oncology

Volumn 38, Issue 4, 2016, Pages 324-328

  Cihan, Meriç Kaymak ^a   Bolat, Fatih ^b   Onay, Hüseyin ^a   Sari, Ahmet ^c   Korǧali, Elif Ünver ^c   Aslan, Şükran ^c   Cura, Ceylan ^c   Içaǧasioǧlu, Dilara ^c  

^a CUMHURIYET UNIVERSITY   (Turkey)

^b Department of Pediatrics   (United States)

^c EGE UNIVERSITY   (Turkey)

Author keywords

G6pc3 mutation; Severe congenital neutropenia type 4

Indexed keywords

RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR; G6PC3 PROTEIN, HUMAN; GLUCOSE 6 PHOSPHATASE;

ARTICLE; BLOOD SMEAR; BONE MARROW BIOPSY; CASE REPORT; CLINICAL FEATURE; DOSE RESPONSE; DRUG DOSE REDUCTION; DRUG EFFECT; G6PC3 GENE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MONOCYTOSIS; MUTATIONAL ANALYSIS; NEUTROPHIL COUNT; NEWBORN; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEVERE CONGENITAL NEUTROPENIA; SEVERE CONGENITAL NEUTROPENIA TYPE 4; THROMBOCYTE VOLUME; BLOOD; BLOOD SAMPLING; ENZYMOLOGY; GENETICS; MUTATION; NEUTROPENIA; PATHOLOGY; THROMBOCYTE;

BLOOD PLATELETS; BLOOD SPECIMEN COLLECTION; GLUCOSE-6-PHOSPHATASE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEUTROPENIA;

EID: 84955559724     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0000000000000504     Document Type: Article

References (20)

1. Klein C. Genetic defects in severe congenital neutropenia: Emerging insights into life and death of human neutrophil granulocytes. Annu Rev Immunol. 2011;29:399-413.
2. Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med. 2009;360:32-43.
3. Dursun A, Ozgul RK, Soydas A, et al. Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: A probable new familial syndrome with multisystem involvement. Clin Dysmorphol. 2009;18:19-23.
4. Boztug K, Rosenberg PS, Dorda M, et al. Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr. 2012;160:679-683.
5. Pan C-J, Lei K-J, Annabi B, et al. Transmembrane topology of glucose-6-phosphatase. J Biol Chem. 1998;273:6144-6148.
6. Mithieux G. New knowledge regarding glucose-6 phosphatase gene and protein and their roles in the regulation of glucose metabolism. Eur J Endocrinol. 1997;136:137-145.
7. Mithieux G, Rajas F, Gautier-Stein A. A novel role for glucose 6-phosphatase in the small intestine in the control of glucose homeostasis. J Biol Chem. 2004;279:44231-44234.
8. Pocai A, Obici S, Schwartz GJ, et al. A brain-liver circuit regulates glucose homeostasis. Cell Metab. 2005;1:53-61.
9. Arden SD, Zahn T, Steegers S, et al. Molecular cloning of a pancreatic islet-specific glucose-6-phosphatase catalytic subunit- related protein. Diabetes. 1999;48:531-542.
10. Martin CC, Bischof LJ, Bergman B, et al. Cloning and characterization of the human and rat islet-specific glucose- 6-phosphatase catalytic subunit-related protein (IGRP) genes. J Biol Chem. 2001;276:25197-25207.
11. Petrolonis AJ, Yang Q, Tummino PJ, et al. Enzymatic characterization of the pancreatic islet-specific glucose- 6-phosphatase-related protein (IGRP). J Biol Chem. 2004;279: 13976-13983.
12. Martin CC, Oeser JK, Svitek CA, et al. Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein. J Mol Endocrinol. 2002;29: 205-222.
13. Guionie O, Clottes E, Stafford K, et al. Identification and characterisation of a new human glucose-6-phosphatase isoform. FEBS Lett. 2003;551:159-164.
14. Aróstegui JI, deToledo JS, Pascal M, et al. A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. Blood. 2009;114:1718-1719.
15. Desplantes C, Fremond ML, Beaupain B, et al. Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry. Orph J Rare Dis. 2014;9:183.
16. Banka S, Wynn R, Newman WG. Variability of bone marrow morphology in G6PC3 mutations: is there a genotypephenotype correlation or age-dependent relationship? Am J Hematol. 2011;86:235-237.
17. Bussel J. Disorders of platelets. In: Lanskowsky P, ed. Manual of Pediatric Hematology and Oncology, 5th ed. San Diego, CA: Elsevier; 2011:321-377.
18. McDermott DH, De Ravin SS, Jun HS, et al. Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. Blood. 2010;116:2793-2802.
19. Hayee B, Antonopoulos A, Murphy EJ, et al. G6PC3 mutations are associated with a major defect of glycosylation: A novel mechanism for neutrophil dysfunction. Glycobiology. 2011;21:914-924.
20. Olcay L, Ünal S, Öztürk A, et al. Granulocytic and non granulocytic lineages in children with congenital neutropenia and their non neutropenic parents: biochemical, functional, morphological and genetic evaluation. Haematologica. 2012; 97(suppl):36-37.