SPTB基因杂合突变致遗传性球形红细胞增多症1例

doi:10.3969/j.issn.1004-583X.2021.11.012

临床荟萃 ›› 2021, Vol. 36 ›› Issue (11): 1019-1023.doi: 10.3969/j.issn.1004-583X.2021.11.012

SPTB基因杂合突变致遗传性球形红细胞增多症1例

温雪, 张志华, 张荣娟, 郝长来()

承德医学院附属医院血液内科,河北承德 067000

收稿日期:2021-08-23 出版日期:2021-11-20 发布日期:2021-12-01
通讯作者: 郝长来 E-mail:haochanglai882@163.com
基金资助:
河北省自然科学基金资助项目——组蛋白脱乙酰化酶抑制剂对多发性骨髓瘤细胞Notch通路影响的研究(H2013406112)

Hereditary spherocytosis caused by SPTB gene hybrid mutation: a case report

Wen Xue, Zhang Zhihua, Zhang Rongjuan, Hao Changlai()

Department of Hematology, Affiliated Hospital of Chengde Medical University, Chengde 067000, China

Received:2021-08-23 Online:2021-11-20 Published:2021-12-01
Contact: Hao Changlai E-mail:haochanglai882@163.com

摘要/Abstract

摘要：

回顾性分析1例遗传性球形红细胞增多症(hereditary spherocytosis,HS)患者的临床资料,利用SWISS-MODEL软件对SPTB基因突变进行蛋白结构预测并文献复习。患者因贫血就诊,血常规提示血细胞三系减少,基因测序分析,患者SPTB基因杂合突变c.5551C>T(exon26,NM_001355436),为自发突变。蛋白质结构预测结果为c.5551C>T(p.Q1851X) 位点变异导致蛋白截断突变。同时合并ANK1基因杂合突变c.1495G>T(p.A499S),突变位点来自父亲, 为非致病基因。

关键词: 球形红细胞增多,遗传性, SPTB基因, ANK1基因, 蛋白质结构预测

Abstract:

Retrospective analsis concerned with the clinical data of a patient with hereditary spherocytosis (HS), and SWISS-MODEL software used for protein structure prediction of SPTB gene mutation. The literatures were reviewed. Blood routine of the patient in clinic showed anemia, RBC, WBC and platelet decreased. Gene sequencing analysis proved that heterozygous mutation of SPTB gene c.5551C>T (exon26, NM_001355436) underwent spontaneous mutation. Protein structure prediction was c.5551C>T (p.Q1851X) mutation caused protein truncation mutation, and merged with heterozygous mutation of ANK1 gene c.1495G>T (p.A499S). The mutation site was agnate source, and non-pathogenic gene was confirmed.

Key words: spherocytosis,hereditary, SPTB gene, ANK1 gene, protein structure prediction

中图分类号:

R556.61

温雪, 张志华, 张荣娟, 郝长来. SPTB基因杂合突变致遗传性球形红细胞增多症1例[J]. 临床荟萃, 2021, 36(11): 1019-1023.

Wen Xue, Zhang Zhihua, Zhang Rongjuan, Hao Changlai. Hereditary spherocytosis caused by SPTB gene hybrid mutation: a case report[J]. Clinical Focus, 2021, 36(11): 1019-1023.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2021.11.012

https://huicui.hebmu.edu.cn/CN/Y2021/V36/I11/1019

图/表 4

图1 患者骨髓形态学检查 a.骨髓病理活检; b.骨髓象分析

图2 患者及其父母SPTB基因测序 a.患者SPTB 基因杂合突变 c.5551C>T(p.Q1851X);b、c.患者父亲、母亲 SPTB 基因型为野生型

图3 患者及其父母ANK1基因测序 a.患者ANK1基因杂合突变c.1495G>T(p.A499S);b.患者父亲ANK1基因在该位点为杂合变异(无致病性);c.患儿母亲ANK1 基因型为野生型

图4 SPTB基因突变前后的蛋白三维结构预测 a.野生型结构; b.突变型结构

参考文献 12

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SPTB基因杂合突变致遗传性球形红细胞增多症1例

Hereditary spherocytosis caused by SPTB gene hybrid mutation: a case report

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