ArticleJournal of clinical immunology2013
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.
Article in Journal of clinical immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 16 citations in OpenAlex.
- A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.Human mutation · 2026Review
- Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.Journal of clinical immunology · 2024Article
- Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.Research square · 2024Article
- Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.medRxiv : the preprint server for health sciences · 2024Article
- Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2023Article
- Case Report: Association between cyclic neutropenia and SRP54 deficiency.Frontiers in immunology · 2022Article
- Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease.iScience · 2021Article
- Oscillations in a white blood cell production model with multiple differentiation stages.Journal of mathematical biology · 2020Article
- Sudanese doctors continue to offer their lives around the globe fighting coronavirus (COVID-19) pandemic.Sudanese journal of paediatrics · 2020Article
- Understanding, treating and avoiding hematological disease: better medicine through mathematics?Bulletin of mathematical biology · 2015Article
- Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.Molecular genetics and metabolism · 2015Article
- 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 · 2014Article
- Genetics and genomic medicine in Saudi Arabia.Molecular genetics & genomic medicine · 2014Article
- Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines.Journal of clinical immunology · 2014Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePatients with autosomal recessive cyclic neutropenia have no known causative genetic defect yet.
methodsAutozygosity mapping on two branches of an extended multiplex consanguineous family presenting with cyclic neutropenia or severe congenital neutropenia to look for candidate gene, followed by candidate gene selection and sequencing.
resultsA single autozygous interval on Chr17:33,901,938-45,675,414 that is exclusively shared by the affected members was identified. This interval spans 11.8 Mb and contains 30 genes. Review of these genes highlighted G6PC3 as the most likely candidate given its known role in neutrophil biology. Direct sequencing revealed a novel homozygous mutation (NM_138387.3, c.974T > G, p.Leu325Arg). Two of our patients had associated congenital defects that are known to occur in patients with G6PC3 mutations, including congenital heart disease and intermittent thrombocytopenia.
conclusionBiallelic G6PC3 defects should be considered in patients with autosomal recessive cyclic neutropenia, especially those with typical associated congenital defects.
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