一项针对中欧遗传性球形红细胞增多症患者的单中心队列研究显示，新型致病基因型的出现频率很高。 - Suppr

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

作者信息

Kager Leo, Jimenez-Heredia Raúl, Zeitlhofer Petra, Novak Wolfgang, Eder Sebastian K, Segarra-Roca Anna, Frohne Alexandra, Nebral Karin, Haimel Matthias, Geyeregger René, Roetzer-Londgin Katharina, Haas Oskar A, Boztug Kaan

机构信息

St. Anna Children's Hospital Medical University of Vienna Vienna Austria.

St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.

出版信息

Hemasphere. 2024 Jan 26;8(1):e31. doi: 10.1002/hem3.31. eCollection 2024 Jan.

DOI:10.1002/hem3.31

PMID:38434532

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10878193/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e5c/10878193/558158a4ef79/HEM3-8-e31-g001.jpg

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A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

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引用本文的文献

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Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.

Br J Haematol. 2023 May;201(4):e46-e49. doi: 10.1111/bjh.18760. Epub 2023 Mar 16.

Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing.

Clin Genet. 2023 Jan;103(1):67-78. doi: 10.1111/cge.14244. Epub 2022 Oct 21.

Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.

Clin Genet. 2022 Dec;102(6):474-482. doi: 10.1111/cge.14223. Epub 2022 Sep 26.

The band 3-ankyrin multiprotein complex comes in from the cold.

Nat Struct Mol Biol. 2022 Jul;29(7):621-623. doi: 10.1038/s41594-022-00789-5.

Genotype-phenotype correlation in children with hereditary spherocytosis.

Br J Haematol. 2020 Nov;191(3):486-496. doi: 10.1111/bjh.16750. Epub 2020 May 20.

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.

Ann Hematol. 2020 May;99(5):955-962. doi: 10.1007/s00277-020-03986-8. Epub 2020 Mar 23.

The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.

Hemasphere. 2019 Aug 7;3(4):e276. doi: 10.1097/HS9.0000000000000276. eCollection 2019 Aug.

Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.

Br J Haematol. 2020 Mar;188(5):784-795. doi: 10.1111/bjh.16244. Epub 2019 Oct 10.

Advances in understanding the pathogenesis of red cell membrane disorders.

Br J Haematol. 2019 Oct;187(1):13-24. doi: 10.1111/bjh.16126. Epub 2019 Jul 31.

Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte.

Orphanet J Rare Dis. 2019 May 23;14(1):114. doi: 10.1186/s13023-019-1070-0.

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A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

作者信息

机构信息

St. Anna Children's Hospital Medical University of Vienna Vienna Austria.

St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.

出版信息

Hemasphere. 2024 Jan 26;8(1):e31. doi: 10.1002/hem3.31. eCollection 2024 Jan.

DOI:10.1002/hem3.31

PMID:38434532

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10878193/

Abstract

摘要

相似文献

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

Hemasphere. 2024 Jan 26;8(1):e31. doi: 10.1002/hem3.31. eCollection 2024 Jan.

Nefrologia (Engl Ed). 2020 Jul-Aug;40(4):421-428. doi: 10.1016/j.nefro.2019.10.009. Epub 2020 Feb 26.

Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report.

J Med Case Rep. 2016 Dec 1;10(1):337. doi: 10.1186/s13256-016-1144-8.

High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis.

J Pediatr. 1998 Jan;132(1):117-20. doi: 10.1016/s0022-3476(98)70495-0.

A Case of Glaucoma in Hereditary Spherocytosis.

J Glaucoma. 2018 Dec;27(12):e187-e190. doi: 10.1097/IJG.0000000000001075.

Clinical course of 63 children with hereditary spherocytosis: a retrospective study.

Rev Bras Hematol Hemoter. 2012;34(1):9-13. doi: 10.5581/1516-8484.20120006.

Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics.

Haematologica. 2012 Apr;97(4):516-23. doi: 10.3324/haematol.2011.052845. Epub 2011 Nov 4.

Hereditary spherocytosis caused by copy number variation in SPTB gene identified through targeted next-generation sequencing.

Int J Hematol. 2019 Aug;110(2):250-254. doi: 10.1007/s12185-019-02630-0. Epub 2019 Mar 21.

Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing.

Int J Mol Sci. 2021 Oct 12;22(20):11007. doi: 10.3390/ijms222011007.

Hereditary spherocytosis before and after splenectomy and risk of hospitalization for infection.

Pediatr Res. 2023 Apr;93(5):1336-1341. doi: 10.1038/s41390-022-02229-y. Epub 2022 Aug 1.

引用本文的文献

Genetic screening strategy for children with hereditary spherocytosis in Jiangxi Province of China.

Front Pediatr. 2025 Jan 17;12:1487121. doi: 10.3389/fped.2024.1487121. eCollection 2024.

本文引用的文献

Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.

Br J Haematol. 2023 May;201(4):e46-e49. doi: 10.1111/bjh.18760. Epub 2023 Mar 16.

Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing.

Clin Genet. 2023 Jan;103(1):67-78. doi: 10.1111/cge.14244. Epub 2022 Oct 21.

Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.

Clin Genet. 2022 Dec;102(6):474-482. doi: 10.1111/cge.14223. Epub 2022 Sep 26.

The band 3-ankyrin multiprotein complex comes in from the cold.

Nat Struct Mol Biol. 2022 Jul;29(7):621-623. doi: 10.1038/s41594-022-00789-5.

Genotype-phenotype correlation in children with hereditary spherocytosis.

Br J Haematol. 2020 Nov;191(3):486-496. doi: 10.1111/bjh.16750. Epub 2020 May 20.

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.

Ann Hematol. 2020 May;99(5):955-962. doi: 10.1007/s00277-020-03986-8. Epub 2020 Mar 23.

The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.

Hemasphere. 2019 Aug 7;3(4):e276. doi: 10.1097/HS9.0000000000000276. eCollection 2019 Aug.

Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.

Br J Haematol. 2020 Mar;188(5):784-795. doi: 10.1111/bjh.16244. Epub 2019 Oct 10.

Advances in understanding the pathogenesis of red cell membrane disorders.

Br J Haematol. 2019 Oct;187(1):13-24. doi: 10.1111/bjh.16126. Epub 2019 Jul 31.

Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte.

Orphanet J Rare Dis. 2019 May 23;14(1):114. doi: 10.1186/s13023-019-1070-0.

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

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A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

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