[Pedigree Analysis of ACTN1-Related Thrombocytopenia Attributed to A Novel Mutation]

Objective: To investigate the clinical phenotype and genotype of an ACTN1-associated thrombocytopenic family and explore its molecular pathogenesis.All the family members' peripheral blood was collected for routine blood tests, blood smear, coagulation function, and platelet aggregation test. Flow cytometry was used to detect the expression of platelet CD41 and CD61. The proband and her father were tested bone marrow cytomorphology. Whole-exome sequencing techniques were performed to detect and uncover mutant loci of suspected pathogenic genes. Bioinformatics was used to assess the conserved nature of the mutated loci and to analyze the effect of the mutated genes leading to the function of the corresponding amino acid sequences.The platelet count of the proband was 88×10In the present study, the newly uncovered missense mutation c.2396G＞A in exon 20 of the ACTN1 gene is potentially the molecular mechanism for the thrombocytopenia.新的突变导致ACTN1相关血小板减少症的家系研究.对1个ACTN1相关血小板减少症家系进行临床表型和基因型研究，并探讨其分子发病机制.抽取全部家系成员外周血，检测血常规、血涂片、凝血功能、血小板聚集试验。流式细胞术检测血小板CD41和CD61的表达。先证者及其父亲行骨髓细胞形态学检测。全外显子测序技术扩增血小板型出血障碍相关基因所有外显子及其侧翼序列，PCR产物纯化后直接测序进行基因分析。采用生物信息学软件评估突变位点保守性、危害性；采用分子结构模拟图分析预测突变氨基酸对α-肌动蛋白-1结构和功能的影响.先证者血小板数88×10新发现的ACTN1基因第20外显子c.2396G＞A错义突变是导致本研究家系血小板减少症发生的分子机制.