靶向二代测序鉴定出遗传性球形红细胞增多症ANK1基因中的一个新的无义突变：病例报告
Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report.
作者信息
Fu Pan, Jiao Yang-Yang, Chen Kai, Shao Jing-Bo, Liao Xue-Lian, Yang Jing-Wei, Jiang Sha-Yi
机构信息
Department of Hematology and Oncology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200062, China.
Department of Hematology and Oncology, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, China.
出版信息
World J Clin Cases. 2022 May 26;10(15):4923-4928. doi: 10.12998/wjcc.v10.i15.4923.
BACKGROUND
Hereditary spherocytosis (HS) is characterized by anemia, jaundice, splenomegaly, and cholelithiasis, and is caused by abnormal genes encoding red blood cell membrane components. The most common mutations found in HS are in the gene.
CASE SUMMARY
A 4-mo-old girl was admitted to our hospital with pallor that had lasted for more than 2 mo. She presented with jaundice, anemia and splenomegaly. A heterozygous mutation of (exon23: c.G2467T:p.E823X) was identified, and the mutation was determined to be autosomal dominant. This mutation is linked to the relatively serious anemia she had after birth; this anemia improved with age.
CONCLUSION
The utilization of next-generation sequencing may assist with the accurate diagnosis of HS, especially in atypical cases.
背景
遗传性球形红细胞增多症（HS）的特征为贫血、黄疸、脾肿大和胆结石，由编码红细胞膜成分的异常基因引起。HS中最常见的突变存在于 基因中。
病例摘要
一名4个月大的女孩因持续2个多月的面色苍白入住我院。她伴有黄疸、贫血和脾肿大。鉴定出 （外显子23：c.G2467T:p.E823X）的杂合突变，该突变被确定为常染色体显性遗传。此突变与她出生后相对严重的贫血有关；这种贫血随着年龄增长有所改善。
结论
利用下一代测序技术可能有助于HS的准确诊断，尤其是在非典型病例中。
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