2022
DOI: 10.1111/cge.14244
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Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing

Abstract: Hereditary spherocytosis (HS) is the most common type of hereditary erythrocyte membrane disease and has varied phenotypic features and genetic patterns. We herein performed a retrospective study of 94 patients with HS and aimed to investigate the genetic variations and genotype–phenotype correlations using targeted next‐generation sequencing. In 79/94 (84%) patients, 83 HS variants including 67 novel variants were identified. Pathogenic variants of SPTB, ANK1, SLC4A1, SPTA1, and EPB42 were found in 32/79(41%)… Show more

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Cited by 7 publications
(8 citation statements)
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“…Lower frequencies of causative ANK1 variants were reported in cohorts from Western Europe (27%) 4 and East Asia (29%) 8 . Stop‐gain and frameshift mutations were found in 75% of our patients with ANK1 variants, similar to results from East 3 and South Asia 7 . Interestingly, the intronic variant leading to a frameshift ( ANK1 , c.1405−9G>A) appears common and was described in different ancestries (Table 1 and Supporting Information S1: Table ).…”
Section: Patient Id Gene Gdna (Hg19)a Cdna Changeb Protein Changec St...supporting
confidence: 77%
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“…Lower frequencies of causative ANK1 variants were reported in cohorts from Western Europe (27%) 4 and East Asia (29%) 8 . Stop‐gain and frameshift mutations were found in 75% of our patients with ANK1 variants, similar to results from East 3 and South Asia 7 . Interestingly, the intronic variant leading to a frameshift ( ANK1 , c.1405−9G>A) appears common and was described in different ancestries (Table 1 and Supporting Information S1: Table ).…”
Section: Patient Id Gene Gdna (Hg19)a Cdna Changeb Protein Changec St...supporting
confidence: 77%
“…HS‐causing defects comprise ANK1 (encoding ankyrin‐1), SPTB (encoding β‐spectrin), SPTA1 (encoding α‐spectrin), SLC4A1 (encoding band 3), and EPB42 (encoding protein 4.2) mutations. HS occurs in all ethnic groups, with differences in overall prevalence and genetic subtypes 2,3 …”
Section: Patient Id Gene Gdna (Hg19)a Cdna Changeb Protein Changec St...mentioning
confidence: 99%
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