ArticlePloS one2015
Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report.World journal of clinical cases · 2022Article
- Exome sequencing for diagnosis of congenital hemolytic anemia.Orphanet journal of rare diseases · 2020Article
- A de novo ANK1 mutation associated to hereditary spherocytosis: a case report.BMC pediatrics · 2019Article
- Old and new insights into the diagnosis of hereditary spherocytosis.Annals of translational medicine · 2018Review
- Article
- Identification of a novelOncotarget · 2017Article
- Diagnostic approaches for inherited hemolytic anemia in the genetic era.Blood research · 2017Review
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spherocytosis (HS), a common form of inherited hemolytic anemia, is a heterogeneous group of disorders with regard to clinical severity, protein defects, and mode of inheritance. Causal mutations in at least five genes have been reported so far. Because multiple genes have been associated with HS, clinical genetic testing that relies on direct sequencing will be a challenge. In this study, we used whole exome sequencing to identify a novel nonsense mutation in ANK1 (p.Q1772X, NM_020476) that resulted in a truncated protein in a Korean patient with HS. Sanger sequencing confirmed the two affected individuals in the patient's family were heterozygous for the mutation. This is the first report of a Korean family that carries an ANK1 mutation responsible for HS. Our results demonstrate that next generation sequencing is a powerful approach for rapidly determining the genetic etiology of HS.
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