Clinical and genetic analysis of four patients with congenital neutropenia
OBJECTIVE: To delineate the clinical feature and genetic basis of four patients with congenital neutropenia.
METHODS: All patients were subjected to whole exome sequencing (WES). Suspected variants were verified by Sanger sequencing.
RESULTS: The patients (two boys and two girls), aged 7 to 15 months, suffered from neutropenia and recurrent infections. Bone marrow smears showed a significant decrease in the proportion of rod-shaped and lobulated granulocytes, which suggested impaired development and maturation of bone marrow neutrophils. WES has discovered heterozygous variants (c.496G>A, c.58C>G, c.391G>A and IVS1+5T>A) of the ELANE gene in the patients. Among these, c.58C>G and IVS1+5T>A were unreported previously. Follow up revealed patients 1 and 3 had periodic neutropenia, while patients 2 and 4 had severe congenital neutropenia. After attaining the definite diagnosis, the patients were treated symptomatically.
CONCLUSION: The main clinical feature of congenital neutropenia is refractory recurrent bacterial infections, for which mutations of the ELANE gene are a common cause. Two novel pathogenic ELANE variants have been discovered in this study.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:37 |
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| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 37(2020), 11 vom: 10. Nov., Seite 1222-1225 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Zhu, Hao [VerfasserIn] |
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| Links: |
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| Themen: |
EC 3.4.21.37 |
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| Anmerkungen: |
Date Completed 19.11.2020 Date Revised 19.11.2020 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.cn511374-20190825-00430 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM317468014 |
|---|
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| 245 | 1 | 0 | |a Clinical and genetic analysis of four patients with congenital neutropenia |
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| 500 | |a Date Completed 19.11.2020 | ||
| 500 | |a Date Revised 19.11.2020 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To delineate the clinical feature and genetic basis of four patients with congenital neutropenia | ||
| 520 | |a METHODS: All patients were subjected to whole exome sequencing (WES). Suspected variants were verified by Sanger sequencing | ||
| 520 | |a RESULTS: The patients (two boys and two girls), aged 7 to 15 months, suffered from neutropenia and recurrent infections. Bone marrow smears showed a significant decrease in the proportion of rod-shaped and lobulated granulocytes, which suggested impaired development and maturation of bone marrow neutrophils. WES has discovered heterozygous variants (c.496G>A, c.58C>G, c.391G>A and IVS1+5T>A) of the ELANE gene in the patients. Among these, c.58C>G and IVS1+5T>A were unreported previously. Follow up revealed patients 1 and 3 had periodic neutropenia, while patients 2 and 4 had severe congenital neutropenia. After attaining the definite diagnosis, the patients were treated symptomatically | ||
| 520 | |a CONCLUSION: The main clinical feature of congenital neutropenia is refractory recurrent bacterial infections, for which mutations of the ELANE gene are a common cause. Two novel pathogenic ELANE variants have been discovered in this study | ||
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| 700 | 1 | |a Xu, Biao |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Chao |e verfasserin |4 aut | |
| 700 | 1 | |a Zhao, Hongling |e verfasserin |4 aut | |
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