通过靶向外显子组测序鉴定遗传性球形红细胞增多症儿童的新突变:单中心经验

A. Kocaaga, H. Cakmak
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引用次数: 0

摘要

目的:遗传性球形红细胞增多症(HS)是北欧人先天性溶血性贫血的常见原因。它的特点是由红细胞结构膜蛋白谱蛋白和锚蛋白缺陷引起的球形细胞。迄今为止,有超过5个候选基因,包括ANK1、SPTB、SPTA1、SLC4A1和EPB42与HS相关。在这里,我们的目的是调查新的以及已知的突变在8名土耳其儿童临床怀疑HS的存在。材料和方法:我们介绍了患者的临床特征,并利用靶向外显子组测序确定了致病基因变异。8名临床怀疑患有HS的儿童参加了这项研究。对家族史、病史、临床检查、相关实验室检查结果、渗透易碎性试验(OFT)和遗传结果进行评估。结果:检测到6种致病变异,包括3种ANK1变异、2种SPTB变异和1种SLC4A1变异。所有这些突变都是新的变体。ANK1和SPTB是HS患儿中最常见的突变基因。结论:本研究扩大了ANK1、SPTB和SLC4A1的突变谱。这是第一个确定土耳其HS患儿遗传和临床特征的研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Identification of Novel Mutations in Children with Hereditary Spherocytosis by Targeted Exome Sequencing: A Single Center Experience
Aim: Hereditary spherocytosis (HS) is a prevalent cause of congenital hemolytic anemia in Northern Europeans. It is characterized by spherocytes resulting from defects in the erythrocyte structural membrane proteins spectrin and ankyrin. To date, more than five candidate genes, including ANK1, SPTB, SPTA1, SLC4A1, and EPB42 have been linked to HS. Here, we aim to investigate the presence of novel as well as known mutations in eight Turkish children with clinically suspected HS. Material and Methods: We presented the clinical features of the patients and identified the causative gene variants using targeted exome sequencing. Eight children who were clinically suspected of having HS enrolled in this study. A family and medical history, clinical examination, relevant laboratory test results, osmotic fragility test (OFT), and genetic results were evaluated. Results: Six causative variants, including three ANK1 variants, two SPTB variants and one SLC4A1 variant were detected. All these mutations were novel variants. ANK1 and SPTB are the most common mutant genes in children with HS. Conclusion: This study expanded the mutation spectrum of ANK1, SPTB and SLC4A1. This is the first study to determine the genetic and clinical characteristics of children with HS in Turkey.
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