ArticleJournal of cellular and molecular medicine2019
Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis.
Article in Journal of cellular and molecular medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 15 citations in OpenAlex.
- Pharmacological readthrough and base editing forMolecular therapy. Nucleic acids · 2026Article
- A PathogenicHuman mutation · 2026Article
- Three novel heterozygous ANK1 loss-of-function variants cause hereditary spherocytosis in Chinese families.Annals of hematology · 2025Article
- A novelFrontiers in pediatrics · 2025Article
- Genotype clinical phenotype analysis of 35 cases of hereditary spherocytosis in children.Frontiers in pediatrics · 2025Article
- Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients.Scientific reports · 2024Article
- Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region.Journal of hematopathology · 2023Article
- Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin.Life (Basel, Switzerland) · 2023Article
- Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report.World journal of clinical cases · 2022Article
- Severe hyperbilirubinemia in a neonate with hereditary spherocytosis due to aWorld journal of clinical cases · 2021Article
- Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis.Journal of cellular and molecular medicine · 2019Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spherocytosis (HS) is the most common inherited haemolytic anaemia disorder. ANK1 mutations account for most HS cases, but pathogenicity analysis and functional research have not been widely performed for these mutations. In this study, in order to confirm diagnosis, gene mutation was screened in two unrelated Chinese families with HS by a next-generation sequencing (NGS) panel and then confirmed by Sanger sequencing. Two novel heterozygous mutations (c.C841T, p.R281X and c.T290G, p.L97R) of the ANK1 gene were identified in the two families respectively. Then, the pathogenicity of the two new mutations and two previously reported ANK1 mutations (c.C648G, p.Y216X and c.G424T, p.E142X) were studied by in vitro experiments. The four mutations increased the osmotic fragility of cells, reduced the stabilities of ANK1 proteins and prevented the protein from localizing to the plasma membrane and interacting with SPTB and SLC4A1. We classified these four mutations into disease-causing mutations for HS. Thus, conducting the same mutation test and providing genetic counselling for the two families were meaningful and significant. Moreover, the identification of two novel mutations enriches the ANK1 mutation database, especially in China.
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