Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Desplantes, Claire ^a   Fremond, Marie Louise ^b   Beaupain, Blandine ^c   Harousseau, Jean Luc ^d   Buzyn, Agnès ^e   Pellier, Isabelle ^f   Roques, Gaelle ^g   Morville, Pierre ^g   Paillard, Catherine ^a   Bruneau, Julie ^h   Pinson, Lucile ⁱ   Jeziorski, Eric ⁱ   Vannier, Jean Pierre ^j   Picard, Capucine ^h   Bellanger, Florence ^c   Romero, Norma ^k   De Pontual, Loïc ^b   Lapillonne, Hélène ^l   Lutz, Patrick ^a   Chantelot, Christine Bellanné ^c   Donadieu, Jean ^c   more..

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b HÔPITAL JEAN VERDIER   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d NANTES UNIVERSITY HOSPITAL   (France)

^e HÔPITAL SAINT ANTOINE   (France)

^f ANGERS UNIVERSITY HOSPITAL   (France)

^g REIMS UNIVERSITY HOSPITAL   (France)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ HÔPITAL ARNAUD DE VILLENEUVE   (France)

^j ROUEN UNIVERSITY HOSPITAL   (France)

^k Sorbonne Université   (France)

^l CENTRE DE RECHERCHE SAINT ANTOINE   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE; GLUCOSE 6 PHOSPHATASE CATALYTIC SUBUNIT 3; GRANULOCYTE COLONY STIMULATING FACTOR; STEROID; UNCLASSIFIED DRUG; G6PC3 PROTEIN, HUMAN;

ACUTE MYELOBLASTIC LEUKEMIA; ADOLESCENT; ADULT; ARTICLE; BONE MARROW BIOPSY; CAUSE OF DEATH; CHILD; CHRONIC DIARRHEA; CLINICAL ARTICLE; COMORBIDITY; CROHN DISEASE; DISEASE ASSOCIATION; DISEASE REGISTRY; FEMALE; FOLLOW UP; G6PC3 GENE; GENE MUTATION; HEART DISEASE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; MALE; MIDDLE AGED; MUSCLE CRAMP; MUTATIONAL ANALYSIS; MYELODYSPLASTIC SYNDROME; NEUTROPENIA; PRESCHOOL CHILD; SEPSIS; SEVERE CONGENITAL NEUTROPENIA; STEATORRHEA; VEIN MALFORMATION; YOUNG ADULT; EPIDEMIOLOGY; FRANCE; GENETICS; MORTALITY; MUTATION; PEDIGREE; REGISTER; SURVIVAL RATE; TRENDS;

ADULT; FEMALE; FOLLOW-UP STUDIES; FRANCE; GLUCOSE-6-PHOSPHATASE; HUMANS; MALE; MUTATION; NEUTROPENIA; PEDIGREE; REGISTRIES; SURVIVAL RATE; YOUNG ADULT;

EID: 84930685465     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0183-8     Document Type: Article

References (33)

1. Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Bellanne CC, Chantelot C: Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet J Rare Dis 2011, 6:26.
2. Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C: A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009, 360:32-43.
3. Alangari AA, Alsultan A, Osman ME, Anazi S, Alkuraya FS: A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. J Clin Immunol 2013, 33:1403-1406.
4. Banka S, Newman WG: A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. Orphanet J Rare Dis 2013, 8:84.
5. Estevez OA, Ortega C, Tejero A, Fernandez S, Aguado R, Arostegui JI, Gonzalez-Roca E, Pena J, Santamaria M: A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency. Pediatr Blood Cancer 2013, 60:E29-E31.
6. Kaya Z, Egritas O, Albayrak M, Gocun PU, Kocak U, Dalgic B, Gursel T: Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency. J Pediatr Hematol Oncol 2014, 36:e316-e317.
7. Ozgul RK, Yucel-Yilmaz D, Dursun A: Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines. J Clin Immunol 2014, 34:265-266.
8. Stoll C, Alembik Y, Lutz P: A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents. Genet Couns 1994, 5:161-165.
9. Vannier JP, Arnaud-Battandier F, Ricour C, Schmitz J, Buriot D, Griscelli C, Rey J: Chronic neutropenia and Crohn's disease in childhood report of 2 cases. Archiv Francaises Pediatr 1982, 39:367-370.
10. Donadieu J, Leblanc T, Bader MB, Barkaoui M, Fenneteau O, Bertrand Y, Maier-Redelsperger M, Micheau M, Stephan JL, Phillipe N, Bordigoni P, Babin-Boilletot A, Bensaid P, Manel AM, Vilmer E, Thuret I, Blanche S, Gluckman E, Fischer A, Mechinaud F, Joly B, Lamy T, Hermine O, Cassinat B, Bellanné-Chantelot C, Chomienne C, French Severe Chronic Neutropenia Study Group: Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia: experience of the French severe chronic neutropenia study group. Haematologica 2005, 90:45-53.
11. Donadieu J, Fenneteau O, Beaupain B, Beaufils S, Bellanger F, Mahlaoui N, Lambilliotte A, Aladjidi N, Bertrand Y, Mialou V, Perot C, Michel G, Fouyssac F, Paillard C, Gandemer V, Boutard P, Schmitz J, Morali A, Leblanc T, Bellanné-Chantelot C, Associated investigators of the French Severe Chronic Neutropenia Registry: Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. Haematologica 2012, 97:1312-1319.
12. Ferry C, Ouachee M, Leblanc T, Michel G, Notz-Carrere A, Tabrizi R, Flood T, Lutz P, Fischer A, Gluckman E, Donadieu J: Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register. Bone Marrow Transplant 2005, 35:45-50.
13. Bellanne-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J: Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood 2004, 103:4119-4125.
14. Alizadeh Z, Fazlollahi MR, Eshghi P, Hamidieh AA, Ghadami M, Pourpak Z: Two cases of syndromic neutropenia with a report of novel mutation in G6PC3. Iran J Allergy Asthma Immunol 2011, 10:227-230.
15. Arostegui JI, de Toledo JS, Pascal M, Garcia C, Yague J, az de HC: A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. Blood 2009, 114:1718-1719.
16. Aytekin C, Germeshausen M, Tuygun N, Dogu F, Ikinciogullari A: A Novel G6PC3 gene mutation in a patient with severe congenital neutropenia. J Pediatr Hematol Oncol 2012, 35:e81-e83.
17. Banka S, Newman WG, Ozgul RK, Dursun A: Mutations in the G6PC3 gene cause Dursun syndrome. Am J Med Genet A 2010, 152A:2609-2611.
18. Banka S, Wynn R, Newman WG: Variability of bone marrow morphology in G6PC3 mutations: is there a genotype-phenotype correlation or age-dependent relationship? Am J Hematol 2011, 86:235-237.
19. Banka S, Chervinsky E, Newman WG, Crow YJ, Yeganeh S, Yacobovich J, Donnai D, Shalev S: Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. Eur J Hum Genet 2011, 19:18-22.
20. Banka S, Wynn R, Byers H, Arkwright PD, Newman WG: G6PC3 mutations cause non-syndromic severe congenital neutropenia. Mol Genet Metab 2013, 108:138-141.
21. Begin P, Patey N, Mueller P, Rasquin A, Sirard A, Klein C, Haddad E, Drouin E, Le DF: Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency. J Clin Immunol 2012, 33:520-525.
22. Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C: 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.
23. Cullinane AR, Vilboux T, O'Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C, Markello TC, Gunay-Aygun M, Huizing M, Gahl WA: Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol 2011, 131:2017-2025.
24. Gatti S, Boztug K, Pedini A, Pasqualini C, Albano V, Klein C, Pierani P: A case of syndromic neutropenia and mutation in G6PC3. J Pediatr Hematol Oncol 2011, 33:138-140.
25. Smith BN, Evans C, Ali A, Ancliff PJ, Hayee B, Segal AW, Hall G, Kaya Z, Shakoori AR, Linch DC, Gale RE: Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia. Br J Haematol 2012, 158:146-149.
26. Dursun A, Ozgul RK, Soydas A, Tugrul T, Gurgey A, Celiker A, Barst RJ, Knowles JA, Mahesh M, Morse JH: Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. Clin Dysmorphol 2009, 18:19-23.
27. Fernandez BA, Green JS, Bursey F, Barrett B, Macmillan A, McColl S, Fernandez S, Rahman P, Mahoney K, Pereira SL, Scherer SW, Boycott KM, Woods MO, FORGE Canada Consortium: Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype. BMC Med Genet 2012, 13:111.
28. McDermott DH, De Ravin SS, Jun HS, Liu Q, Priel DA, Noel P, Takemoto CM, Ojode T, Paul SM, Dunsmore KP, Hilligoss D, Marquesen M, Ulrick J, Kuhns DB, Chou JY, Malech HL, Murphy PM: Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. Blood 2010, 116:2793-2802.
29. Rosenberg PS, Alter BP, Bolyard AA, Bonilla MA, Boxer LA, Cham B, Fier C, Freedman M, Kannourakis G, Kinsey S, Schwinzer B, Zeidler C, Welte K, Dale DC, Severe Chronic Neutropenia International Registry: The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 2006, 107:4628-4635.
30. Pinsk M, Burzynski J, Yhap M, Fraser RB, Cummings B, Ste-Marie M: Acute myelogenous leukemia and glycogen storage disease 1b. J Pediatr Hematol Oncol 2002, 24:756-758.
31. Schroeder T, Hildebrandt B, Mayatepek E, Germing U, Haas R: A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): a case report. J Med Case Reports 2008, 2:319.
32. Visser G, Rake JP, Fernandes J, Labrune P, Leonard JV, Moses S, Ullrich K, Smit GP: Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. J Pediatr 2000, 137:187-191.
33. Hayee B, Antonopoulos A, Murphy EJ, Rahman FZ, Sewell G, Smith BN, McCartney S, Furman M, Hall G, Bloom SL, Haslam SM, Morris HR, Boztug K, Klein C, Winchester B, Pick E, Linch DC, Gale RE, Smith AM, Dell A, Segal AW: G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction. Glycobiology 2011, 21:914-924.