期刊
ACTA HAEMATOLOGICA
卷 145, 期 1, 页码 78-83出版社
KARGER
DOI: 10.1159/000517050
关键词
Glanzmann's thrombasthenia; ITGB3; Integrin alpha IIb beta 3; Mutation; Family studies
类别
资金
- National Natural Science Foundation of China [81460029]
- Jiangxi 5511 Science and Technology Innovation Talent Project [20171BCB18003]
This study aimed to elucidate the molecular characteristics of a Chinese family with Glanzmann's thrombasthenia (GT), identifying a novel ITGB3 gene mutation in the pedigree. Heterozygous mutations were found in multiple family members, while the specific mutation identified in the proband was not present in public genetic databases.
The objective of this study was to elucidate the molecular characteristics of a Chinese family with Glanzmann's thrombasthenia (GT). The proband was diagnosed with GT based on clinical manifestations, platelet aggregation, and the expression of CD41 and CD61 in platelets. Whole-exome and Sanger sequencing were used to detect genetic defects related to GT in the proband and the family of the pedigree. Whole-exome sequencing showed a c.1784-1802delinsGTCACA, p. S595Cfs*70 homozygous mutation in exon 11 of the ITGB3 gene in the proband. Heterozygous mutations were found in the proband's parents, grandmother, uncle, aunt, and younger brother. This novel p. S595Cfs*70 ITGB3 gene mutation is not present in the 1000 Genomes and ExAC databases. (C) 2021 S. Karger AG, Basel
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