Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report.
Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report.
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通过全基因组测序鉴定中国遗传性球形红细胞增多症和房间隔缺损患者的新型杂合 SPTB 突变：病例报告
DOI：
10.1186/s12887-021-02771-4
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发表时间：
2021-06-28
期刊：
影响因子：
2.4
通讯作者：
Pan S
中科院分区：
文献类型：
--
作者：
Du Z;Luo G;Wang K;Bing Z;Pan S
研究背景遗传性球形红细胞增多症（Hereditary spherocytosis，HS）是一种常见的以球形红细胞异常增多为特征的遗传性红细胞膜疾病，SPTB基因突变是HS最常见的病因之一;然而，迄今为止，在中国人群中由SPTB突变引起的HS病例报道很少。病例介绍一名3岁的中国女孩在青岛大学青岛妇女儿童医院就诊，房间隔缺损（ASD）。同时，她被临床诊断为HS。对先证者及其父母进行全基因组测序（WGS），进行遗传分子分析。先证者经WGS检测发现一个新的SPTB突变（c.1756delG），并经桑格测序证实。该突变导致外显子12中提前终止密码子的移码，导致无义突变（p.Ala586Profs*7）。其父母无类似症状，血常规及血清生化检查未见明显异常。患者的母亲不知道有任何亲戚有HS样症状。经皮经导管封堵术成功地进行治疗ASD.ConclusionIn这项研究中，我们确定了一个新的SPTB移码突变的中国女孩HS。这一发现将扩大SPTB突变谱，为中国人群HS的基因分型提供有价值的信息，并有助于HS的临床管理和遗传咨询。
BackgroundHereditary spherocytosis (HS) is a common inherited red blood cell membrane disorder characterized by an abnormal increase of spherocytes in peripheral blood.SPTBgene mutation is one of the most common causes of HS; however, few cases of HS resulting fromSPTBmutation in the Chinese population have been reported so far.Case presentationA 3-year-old Chinese girl presented to Qingdao Women and Children’s Hospital, Qingdao University, with atrial septal defect (ASD). Meanwhile, she was clinically diagnosed with HS. Whole genome sequencing (WGS) was performed for the proband and her parents for genetic molecular analysis. A novelSPTBmutation (c.1756delG) was detected by WGS and confirmed by Sanger sequencing in the proband. This mutation results in a frameshift with a premature termination codon in exon 12, leading to a nonsense mutation (p.Ala586Profs*7). Her parents had no similar symptoms, and blood routine and serum biochemical tests showed no significant abnormalities. The patient’s mother did not know of any relatives with HS-like symptoms. Percutaneous transcatheter closure was successfully performed for treating the ASD.ConclusionIn this study, we identified a novelSPTBframeshift mutation in a Chinese girl with HS. This finding would expand the spectrum ofSPTBmutations, provide a valuable insight into the genotyping of HS in the Chinese population, and contribute to the clinical management and genetic counseling in HS.
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影响因子：
1.1
作者：
Li, Yuan;Li, Yang;Zhang, Li
通讯作者：
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影响因子：
2.6
作者：
Meglic, Anamarija;Debeljak, Marusa;Podkrajsek, Katarina Trebusak
通讯作者：
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影响因子：
3.5
作者：
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影响因子：
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作者：
Shen, Hongwei;Huang, Hui;Shi, Xiaoliu
通讯作者：
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影响因子：
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作者：
Wang X;Yi B;Mu K;Shen N;Zhu Y;Hu Q;Lu Y
通讯作者：
Lu Y