Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing.
actin binding domain
hereditary spherocytosis
whole exome sequencing
β-spectrin
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
12 Oct 2021
12 Oct 2021
Historique:
received:
03
09
2021
revised:
05
10
2021
accepted:
09
10
2021
entrez:
23
10
2021
pubmed:
24
10
2021
medline:
28
12
2021
Statut:
epublish
Résumé
Hereditary spherocytosis (HS), the most commonly inherited hemolytic anemia in northern Europeans, comprises a group of diseases whose heterogeneous genetic basis results in a variable clinical presentation. High-throughput genome sequencing methods have made a leading contribution to the recent progress in research on and diagnostics of inherited diseases and inspired us to apply whole exome sequencing (WES) to identify potential mutations in HS. The data presented here reveal a novel mutation probably responsible for HS in a single Polish family. Patients with clinical evidence of HS (clinical symptoms, hematological data, and EMA test) were enrolled in the study. The examination of the resulting WES data showed a number of polymorphisms in 71 genes associated with known erythrocyte pathologies (including membranopathies, enzymopathies, and hemoglobinopathies). Only a single
Identifiants
pubmed: 34681667
pii: ijms222011007
doi: 10.3390/ijms222011007
pmc: PMC8540824
pii:
doi:
Substances chimiques
SPTBN1 protein, human
0
Spectrin
12634-43-4
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : National Science Centre, Poland,
ID : 2015/19/B/NZ5/03469.
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