A Case of Syndromic Neutropenia and Mutation in G6PC3

Gatti, Simona; Boztuğ, Kaan; Pedini, Annalisa; Pasqualini, Claudia; Albano, V.; Klein, Christoph; Pierani, Paolo

doi:10.1097/mph.0b013e3181f46bf4

Cited by 13 publications

(11 citation statements)

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“…8,13 To date there are 49 patients described with G6PC3 mutation including our patient. 4,5,7,8,[13][14][15][16][17][18][19][20] Moreover, the homozygous G6PC3 p.L154P mutation has not been previously described. The effect of this amino acid substitution on protein function was predicted using SNAP (http:// www.broad.mit.edu/mpg/snap/), Pmut (http://mmb2.pcb.ub.…”

Section: Discussionmentioning

confidence: 99%

“…Patients with G6PC3 gene mutation are often characterized by various congenital organ malformations including heart and urogenital defects, increased visibility of superficial veins, inner ear hearing loss, facial dysmorphism, and muscle weakness. [4][5][6][7][8] The molecular pathophysiology of G6PC3 deficiency is associated with the disturbed glucose homeostasis, increased endoplasmic reticulum (ER) stress, and apoptosis in neutrophils. 1,4 Here, we report a new case of G6PC3 deficiency caused by the novel homozygous G6PC3 p.L154P mutation.…”

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confidence: 99%

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A Novel G6PC3 Gene Mutation in a Patient With Severe Congenital Neutropenia

Aytekin

Germeshausen

Tuygun

et al. 2013

Journal of Pediatric Hematology/Oncology

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Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a newly described syndromic type of severe congenital neutropenia, associated with multiple organ abnormalities including facial, cardiac, and urogenital abnormalities, and increased visibility of superficial veins. The molecular pathophysiology of G6PC3 deficiency is associated with the disturbed glucose homeostasis, increased endoplasmic reticulum stress, and apoptosis in neutrophils. We report a new case of G6PC3 deficiency caused by a novel homozygous G6PC3 gene mutation (p.Leu154Pro). Most remarkable is that the chronic neutropenia that originated from this novel G6PC3 genetic defect is also accompanied by some other unusual manifestations in this patient: myelokathexis and hypercholesterolemia.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

A Novel G6PC3 Gene Mutation in a Patient With Severe Congenital Neutropenia

Aytekin

Germeshausen

Tuygun

et al. 2013

Journal of Pediatric Hematology/Oncology

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“…[62] presented a case report of the first South American patient with G6PC3 deficiency in 2011. The mutation was a two base pair deletion leading to a frameshift.…”

Section: Glucose-6-phosphatase Catalytic Unit 3 Deficiencymentioning

confidence: 99%

Neutropenia in primary immunodeficiency

Sokolic

2013

Current Opinion in Hematology

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Purpose of review Neutropenia is a feature of several primary immunodeficiency diseases (PIDDs). Because of the diverse pathophysiologies of the PIDDs and the rarity of each disorder, data are often lacking, leading to the necessity of empiric treatment. Recent developments in the understanding of neutropenia in several of the PIDDs make a review of the data timely. Recent findings The category of severe congenital neutropenia continues to expand. Mutations in G6PC3 have been identified as the cause of neutropenia in a minority of previously molecularly undefined cases. Recent advances have broadened our understanding of the pathophysiology and the clinical expression of this disorder. A possible function of the C16orf57 gene has been hypothesized that may explain the clinical overlap between Clerucuzio-type poikiloderma with neutropenia and other marrow diseases. Plerixafor has been shown to be a potentially useful treatment in the warts, hypogammaglobulinemia, infection, and myelokathexis syndrome. Investigations of patients with adenosine deaminase deficient severe combined immunodeficiency have identified neutropenia, and particularly susceptibility to myelotoxins, as a feature of this disorder. Granulocyte-colony stimulating factor is the treatment of choice for neutropenia in PIDD, whereas hematopoietic cell transplantation is the only curative option. Summary The number of PIDDs associated with neutropenia has increased, as has our understanding of the range of phenotypes. Additional data and hypotheses have been generated helping to explain the diversity of presentations of neutropenia in PIDDs.

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“…2,3 In addition to neutropenia, these patients with G6PC3 deficiency may have various congenital abnormalities including prominent skin veins often developing in adult life, various structural defects involving heart, skeleton, and urogenital systems, growth retardation, and endocrine disturbances. [4][5][6][7][8][9] The age of onset and spectrum of clinical manifestations are highly variable among previously reported patients. 4,5,10 Inflammatory colitis resembling ulcerative colitis or the Crohn disease occur frequently in GSD-Ib, but it has rarely been reported in SCN due to G6PC3 mutation.…”

mentioning

confidence: 93%

“…[4][5][6][7][8][9] The age of onset and spectrum of clinical manifestations are highly variable among previously reported patients. 4,5,10 Inflammatory colitis resembling ulcerative colitis or the Crohn disease occur frequently in GSD-Ib, but it has rarely been reported in SCN due to G6PC3 mutation. [10][11][12][13][14] In this study, we describe a case of a 12-year-old girl with G6PC3 mutation complicated with severe IBD, unresponsive to filgrastim but treated successfully with pegylated filgrastim (pegfilgrastim).…”

mentioning

confidence: 93%

Resolution of Inflammatory Colitis With Pegfilgrastim Treatment in a Case of Severe Congenital Neutropenia Due to Glucose 6 Phosphatase Catalytic Subunit-3 Deficiency

Kaya

Eğritaş

Albayrak

et al. 2014

Journal of Pediatric Hematology/Oncology

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Glucose 6 phosphatase catalytic subunit-3 (G6PC3) deficiency is a heterogenous disorder characterized by severe congenital neutropenia and a variety of extrahematopoietic manifestations. Inflammatory bowel disease like colitis is an uncommon complication of G6PC3 deficiency, described only in adolescent and adults. Herein, we describe inflammatory colitis in a 10-year-old girl with severe congenital neutropenia due to G6PC3 deficiency while she was on a high-dose filgrastim. Switching from filgrastim to (pegylated filgrastim) Pegfilgrastim led to rapid resolution of colitis, weight gain, and decreased infections. Pegfilgrastim seems to be a better remedy for treatment of G6PC3 deficiency complicated with inflammatory bowel disease.

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A Case of Syndromic Neutropenia and Mutation in G6PC3

Abstract: This is the first case of G6PC3 deficiency in a patient from South America, caused by a novel mutation in the G6PC3 gene. Our results give insights into the molecular and clinical variability of this disease.

Cited by 13 publications

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A Novel G6PC3 Gene Mutation in a Patient With Severe Congenital Neutropenia

A Novel G6PC3 Gene Mutation in a Patient With Severe Congenital Neutropenia

Neutropenia in primary immunodeficiency

Resolution of Inflammatory Colitis With Pegfilgrastim Treatment in a Case of Severe Congenital Neutropenia Due to Glucose 6 Phosphatase Catalytic Subunit-3 Deficiency

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