新生儿遗传性球形红细胞增多症ANK1基因新突变一例

Identification of a novel ANK1 gene mutation in a newborn with hereditary spherocytosis

目的确定1例新生儿遗传性球形红细胞增多症的基因突变。方法收集患儿及其父母的外周血，提取基因组DNA，用高通量测序技术分析相关基因的序列。对发现的可疑致病突变采用Sanger测序法进行验证。结果在患儿ANKl基因的编码区检出一个杂合性插入突变（g．834—833insc），其造成了基因的开放阅读框移码，导致蛋白质翻译提前终止，造成蛋白功能丧失。结论ANKl基因编码区834至833位间插入碱基C的突变是本例患儿的可疑致病原因。

Objective To determine the disease-causing mutation in a newborn with hereditary spherocytosis. Methods Genomic DNA was extracted from peripheral blood samples of the patient and her parents. Next-generation sequencing was used to analyze the related genes. Suspected pathogenic mutation was verified with polymerase chain reaction and Sanger sequencing. Results An insertional mutation g. 834 _833insC was identified in the coding region of ankyrin-1 （ANK1）gene, which has caused a frame shift, resulting premature termination of protein translation. Conclusion The hereditary spherocytosis in the neonate was probably due to the g. 834 833insC mutation of the ANK1 gene.