A Novel Homozygous Mutation in G6PC3 Presenting as Cyclic Neutropenia and Severe Congenital Neutropenia in the Same Family
Purpose Patients with autosomal recessive cyclic neutropenia have no known causative genetic defect yet. Methods Autozygosity mapping on two branches of an extended multiplex consanguineous family presenting with cyclic neutropenia or severe congenital neutropenia to look for candidate gene, followe...
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| Published in: | Journal of clinical immunology Vol. 33; no. 8; pp. 1403 - 1406 |
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| Main Authors: | , , , , |
| Format: | Journal Article |
| Language: | English |
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01-11-2013
Springer Nature B.V |
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| Abstract | Purpose
Patients with autosomal recessive cyclic neutropenia have no known causative genetic defect yet.
Methods
Autozygosity 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.
Results
A 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.
Conclusion
Biallelic
G6PC3
defects should be considered in patients with autosomal recessive cyclic neutropenia, especially those with typical associated congenital defects. |
|---|---|
| AbstractList | Patients with autosomal recessive cyclic neutropenia have no known causative genetic defect yet.
Autozygosity 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.
A 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.
Biallelic G6PC3 defects should be considered in patients with autosomal recessive cyclic neutropenia, especially those with typical associated congenital defects. 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. Patients with autosomal recessive cyclic neutropenia have no known causative genetic defect yet. Autozygosity 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. A 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. Biallelic G6PC3 defects should be considered in patients with autosomal recessive cyclic neutropenia, especially those with typical associated congenital defects.[PUBLICATION ABSTRACT] Purpose Patients with autosomal recessive cyclic neutropenia have no known causative genetic defect yet. Methods Autozygosity 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. Results A 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. Conclusion Biallelic G6PC3 defects should be considered in patients with autosomal recessive cyclic neutropenia, especially those with typical associated congenital defects. |
| Author | Anazi, Shamsa Osman, Mohamed Elfaki Alangari, Abdullah A. Alkuraya, Fowzan S. Alsultan, Abdulrahman |
| Author_xml | – sequence: 1 givenname: Abdullah A. surname: Alangari fullname: Alangari, Abdullah A. email: aangari@ksu.edu.sa organization: Department of Pediatrics, College of Medicine, King Saud University – sequence: 2 givenname: Abdulrahman surname: Alsultan fullname: Alsultan, Abdulrahman organization: Department of Pediatrics, College of Medicine, King Saud University – sequence: 3 givenname: Mohamed Elfaki surname: Osman fullname: Osman, Mohamed Elfaki organization: Department of Pediatrics, College of Medicine, King Saud University – sequence: 4 givenname: Shamsa surname: Anazi fullname: Anazi, Shamsa organization: Department of Genetics, King Faisal Specialist Hospital and Research Center – sequence: 5 givenname: Fowzan S. surname: Alkuraya fullname: Alkuraya, Fowzan S. organization: Department of Genetics, King Faisal Specialist Hospital and Research Center, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/24105461$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1182/blood-2009-12-258491 10.1111/j.1365-2141.2012.09110.x 10.1002/pbc.22537 10.1056/NEJMoa0805051 10.1097/MOH.0b013e32831952de 10.1016/S0301-472X(98)00061-7 10.1186/1750-1172-6-26 10.1038/70544 10.1146/annurev-immunol-030409-101259 10.1182/blood-2010-01-265942 10.1182/blood-2006-08-019166 10.1016/j.jpeds.2011.09.019 10.1002/ajh.21930 10.1002/0471142905.hg0612s75 10.1182/blood.V92.8.2629 |
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| Keywords | congenital heart disease G6PC3 autozygosity mapping thrombocytopenia severe congenital neutropenia Cyclic neutropenia |
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| References_xml | – volume: 116 start-page: 2783 issue: 15 year: 2010 end-page: 2792 ident: CR4 article-title: Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome publication-title: Blood doi: 10.1182/blood-2009-12-258491 contributor: fullname: De Ravin – volume: 158 start-page: 146 issue: 1 year: 2012 end-page: 149 ident: CR12 article-title: Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia publication-title: Br J Haematol doi: 10.1111/j.1365-2141.2012.09110.x contributor: fullname: Segal – volume: 55 start-page: 314 issue: 2 year: 2010 end-page: 317 ident: CR15 article-title: Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes publication-title: Pediatr Blood Cancer doi: 10.1002/pbc.22537 contributor: fullname: Dale – volume: 92 start-page: 2629 issue: 8 year: 1998 end-page: 2640 ident: CR1 article-title: Cyclical neutropenia and other periodic hematological disorders: a review of mechanisms and mathematical models publication-title: Blood contributor: fullname: Mackey – volume: 360 start-page: 32 issue: 1 year: 2009 end-page: 43 ident: CR7 article-title: A syndrome with congenital neutropenia and mutations in G6PC3 publication-title: N Engl J Med doi: 10.1056/NEJMoa0805051 contributor: fullname: Diestelhorst – volume: 16 start-page: 9 issue: 1 year: 2009 end-page: 13 ident: CR6 article-title: Genetic and molecular diagnosis of severe congenital neutropenia publication-title: Curr Opin Hematol doi: 10.1097/MOH.0b013e32831952de contributor: fullname: Dale – volume: 27 start-page: 401 issue: 3 year: 1999 end-page: 409 ident: CR9 article-title: Occurrence of periodic oscillations in the differential blood counts of congenital, idiopathic, and cyclical neutropenic patients before and during treatment with G-CSF publication-title: Exp Hematol doi: 10.1016/S0301-472X(98)00061-7 contributor: fullname: Mackey – volume: 6 start-page: 26 year: 2011 ident: CR11 article-title: Congenital neutropenia: diagnosis, molecular bases and patient management publication-title: Orphanet J Rare Dis doi: 10.1186/1750-1172-6-26 contributor: fullname: Chantelot – volume: 23 start-page: 433 issue: 4 year: 1999 end-page: 436 ident: CR2 article-title: Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis publication-title: Nat Genet doi: 10.1038/70544 contributor: fullname: Dale – volume: 29 start-page: 399 year: 2011 end-page: 413 ident: CR5 article-title: Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes publication-title: Annu Rev Immunol doi: 10.1146/annurev-immunol-030409-101259 contributor: fullname: Klein – volume: 116 start-page: 2793 issue: 15 year: 2010 end-page: 2802 ident: CR14 article-title: Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis publication-title: Blood doi: 10.1182/blood-2010-01-265942 contributor: fullname: Noel – volume: 109 start-page: 1817 issue: 5 year: 2007 end-page: 1824 ident: CR3 article-title: Neutrophil elastase in cyclic and severe congenital neutropenia publication-title: Blood doi: 10.1182/blood-2006-08-019166 contributor: fullname: Salipante – ident: CR8 – volume: 160 start-page: 679 issue: 4 year: 2012 end-page: 683.e2 ident: CR10 article-title: Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia publication-title: J Pediatr doi: 10.1016/j.jpeds.2011.09.019 contributor: fullname: Curtin – volume: 86 start-page: 235 issue: 2 year: 2011 end-page: 237 ident: CR13 article-title: Variability of bone marrow morphology in G6PC3 mutations: is there a genotype-phenotype correlation or age-dependent relationship? 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| Snippet | Purpose
Patients with autosomal recessive cyclic neutropenia have no known causative genetic defect yet.
Methods
Autozygosity mapping on two branches of an... Patients with autosomal recessive cyclic neutropenia have no known causative genetic defect yet. Autozygosity mapping on two branches of an extended multiplex... Patients with autosomal recessive cyclic neutropenia have no known causative genetic defect yet. Autozygosity mapping on two branches of an extended multiplex... PURPOSEPatients with autosomal recessive cyclic neutropenia have no known causative genetic defect yet. METHODSAutozygosity mapping on two branches of an... |
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| SubjectTerms | Biomedical and Life Sciences Biomedicine Brief Communication Child Genes, Recessive Glucose-6-Phosphatase - genetics Homozygote Humans Immunology Infectious Diseases Internal Medicine Male Medical Microbiology Mutation Neutropenia - diagnosis Neutropenia - genetics Neutropenia - immunology Pedigree Phenotype Severity of Illness Index |
| Title | A Novel Homozygous Mutation in G6PC3 Presenting as Cyclic Neutropenia and Severe Congenital Neutropenia in the Same Family |
| URI | https://link.springer.com/article/10.1007/s10875-013-9945-7 https://www.ncbi.nlm.nih.gov/pubmed/24105461 https://www.proquest.com/docview/1449924635 https://search.proquest.com/docview/1458181746 |
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