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A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man
BACKGROUND: X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2). The genetic basis of more than 40% of CSA cases remains unknown. METHODS: A two-generation Chinese fami...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048311/ https://www.ncbi.nlm.nih.gov/pubmed/33858445 http://dx.doi.org/10.1186/s12920-021-00950-x |
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author | Huang, Jinbo Ge, Meili Shao, Yingqi Wang, Min Jin, Peng Huo, Jiali Li, Xingxin Zhang, Jing Nie, Neng Zheng, Yizhou |
author_facet | Huang, Jinbo Ge, Meili Shao, Yingqi Wang, Min Jin, Peng Huo, Jiali Li, Xingxin Zhang, Jing Nie, Neng Zheng, Yizhou |
author_sort | Huang, Jinbo |
collection | PubMed |
description | BACKGROUND: X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2). The genetic basis of more than 40% of CSA cases remains unknown. METHODS: A two-generation Chinese family with XLSA was studied by next-generation sequencing to identify the underlying CSA-related mutations. RESULTS: In the study, we identified a missense ALAS2 R204Q mutation in a hemizygous Chinese Han man and in his heterozygous daughter. The male proband presented clinical manifestations at 38 years old and had a good response to pyridoxine. CONCLUSIONS: XLSA, as a hereditary disease, can present clinical manifestations later in lives, for adult male patients with ringed sideroblasts and hypochromic anemia, it should be evaluated with gene analyses to exclude CSA. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-021-00950-x. |
format | Online Article Text |
id | pubmed-8048311 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-80483112021-04-15 A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man Huang, Jinbo Ge, Meili Shao, Yingqi Wang, Min Jin, Peng Huo, Jiali Li, Xingxin Zhang, Jing Nie, Neng Zheng, Yizhou BMC Med Genomics Research Article BACKGROUND: X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2). The genetic basis of more than 40% of CSA cases remains unknown. METHODS: A two-generation Chinese family with XLSA was studied by next-generation sequencing to identify the underlying CSA-related mutations. RESULTS: In the study, we identified a missense ALAS2 R204Q mutation in a hemizygous Chinese Han man and in his heterozygous daughter. The male proband presented clinical manifestations at 38 years old and had a good response to pyridoxine. CONCLUSIONS: XLSA, as a hereditary disease, can present clinical manifestations later in lives, for adult male patients with ringed sideroblasts and hypochromic anemia, it should be evaluated with gene analyses to exclude CSA. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-021-00950-x. BioMed Central 2021-04-15 /pmc/articles/PMC8048311/ /pubmed/33858445 http://dx.doi.org/10.1186/s12920-021-00950-x Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Article Huang, Jinbo Ge, Meili Shao, Yingqi Wang, Min Jin, Peng Huo, Jiali Li, Xingxin Zhang, Jing Nie, Neng Zheng, Yizhou A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man |
title | A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man |
title_full | A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man |
title_fullStr | A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man |
title_full_unstemmed | A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man |
title_short | A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man |
title_sort | hemizygous p.r204q mutation in the alas2 gene underlies x-linked sideroblastic anemia in an adult chinese han man |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048311/ https://www.ncbi.nlm.nih.gov/pubmed/33858445 http://dx.doi.org/10.1186/s12920-021-00950-x |
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