ArticleJournal of human genetics2021
The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing.
Article in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 7 citations in OpenAlex.
- Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort.Human genetics · 2025Article
- Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant ofFrontiers in genetics · 2023Article
- Association between haploidentical hematopoietic stem cell transplantation combined with an umbilical cord blood unit and graft-Therapeutic advances in hematology · 2022Article
- Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing.International journal of molecular sciences · 2021Article
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spherocytosis (HS) with hemolysis, splenomegaly, and jaundice as the main clinical symptoms varied in different population and SPTB mutated rate is common except for ANK1 in the Chinese population, whereas only a few studies have been reported. Here, 11 Chinese pediatric patients with newly SPTB mutations detected by targeted next generation sequencing technology were included and analyzed in our study. The characteristics of mutation separation were verified among family members by bidirectional Sanger sequencing. The detected 11 mutations were novel, all of which were heterozygotes, including five de novo mutations, five maternal mutations, and one paternal mutation. Meanwhile, the 11 different novel mutation sites distributed on and near the seven exons included four pathogenic sites and seven likely pathogenic sites. The detection of 11 novel mutation sites gene expanded the mutant spectrum of the SPTB gene, and provided corresponding clinical data, which laid a foundation for the subsequent studies on HS in Chinese population, especially in pediatric patients.
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