A Novel Homozygous Frameshift Mutation in ITGB3 Causes Glanzmann’s Thrombasthenia-Reference-Cited by-同舟云学术

A Novel Homozygous Frameshift Mutation in ITGB3 Causes Glanzmann’s Thrombasthenia

Published:2021-08-17 Issue:1 Volume:145 Page:78-83
ISSN:0001-5792
Container-title:Acta Haematologica
language:en
Short-container-title:Acta Haematol

Author:

Li XueHong,Xu Jing,Li ZhenJiang,Song Yuan,Fei Yan,Yang GuiLin,Tang AiPing

Abstract

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.

Publisher

S. Karger AG

Subject

Hematology,General Medicine

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