A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3mutations

被引：0

作者：

Siddharth Banka

William G Newman

机构：

[1] University of Manchester,Manchester Centre for Genomic Medicine, Institute of Human Development

[2] Central Manchester University Hospitals NHS Foundation Trust,Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, St. Mary’s Hospital

来源：

Orphanet Journal of Rare Diseases | / 8卷

关键词：

Ubiquitously expressed glucose-6-phosphatase enzyme; G-6-Pase; G-6-Pase 3; G6PC3; Severe congenital neutropenia type 4; Neutropenia; Dursun syndrome; Prominent superficial venous pattern; Congenital cardiac defects; Uro-genital anomalies;

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学科分类号：

摘要：

The G6PC3 gene encodes the ubiquitously expressed glucose-6-phosphatase enzyme (G-6-Pase β or G-6-Pase 3 or G6PC3). Bi-allelic G6PC3 mutations cause a multi-system autosomal recessive disorder of G6PC3 deficiency (also called severe congenital neutropenia type 4, MIM 612541). To date, at least 57 patients with G6PC3 deficiency have been described in the literature.

引用

共 18 条

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Banka, Siddharth
Newman, William G.
ORPHANET JOURNAL OF RARE DISEASES, 2013, 8
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Mistry, Anoop
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FRONTIERS IN IMMUNOLOGY, 2017, 8
[3] Case report of congenital neutropenia type 4 with glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency
Dhayhi, Nabil S.
Mahnashi, Mohammed A.
Mokhasha, Alanoud I.
Ahmed, Lana F.
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Ageel, Adeeb A.
Tohary, Mohammed A.
Alhazmi, Abdulaziz H.
CLINICAL CASE REPORTS, 2024, 12 (02):
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Gautam, S.
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CELL DEATH AND DIFFERENTIATION, 2013, 20 (08) : 1068 - 1079
[5] Survival and differentiation defects contribute to neutropenia in glucose-6-phosphatase-β (G6PC3) deficiency in a model of mouse neutrophil granulocyte differentiation
S Gautam
S Kirschnek
I E Gentle
C Kopiniok
P Henneke
H Häcker
L Malleret
A Belaaouaj
G Häcker
Cell Death & Differentiation, 2013, 20 : 1068 - 1079
[6] Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency
Veiga-da-Cunha, Maria
Chevalier, Nathalie
Stephenne, Xavier
Defour, Jean-Philippe
Paczia, Nicole
Ferster, Alina
Achouri, Younes
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Van Schaftingen, Emile
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2019, 116 (04) : 1241 - 1250
[7] Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review
Velez-Tirado, Natalia
Yamazaki-Nakashimada, Marco Antonio
Lopez Valentin, Enrique
Partida-Gaytan, Armando
Scheffler-Mendoza, Selma C.
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SCANDINAVIAN JOURNAL OF IMMUNOLOGY, 2022, 95 (04)
[8] Mutations in the G6PC3 Gene Cause Dursun Syndrome
Banka, Siddharth
Newman, William G.
Ozgul, R. Koksal
Dursun, Ali
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (10) : 2609 - 2611
[9] Amyloidosis in a Patient With Congenital Neutropenia Because of G6PC3 Deficiency
Yildirmak, Zeynep Yildiz
Ozcelik, Gul
Ozagari, Ayse Aysim
Genc, Dildar Bahar
Onay, Huseyin
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 2022, 44 (02) : E431 - E433
[10] Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations
Notarangelo, Lucia Dora
Savoldi, Gianfranco
Cavagnini, Sara
Bennato, Veronica
Vasile, Sabrina
Pilotta, Alba
Plebani, Alessandro
Porta, Fulvio
ITALIAN JOURNAL OF PEDIATRICS, 2014, 40

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