Luo Yeping, Li Zhuoying, Huang Lihua, Tian Jing, Xiong Menglong, Yang Zuocheng
Department of Pediatrics, Third Xiangya Hospital of Central South University, Changsha, China.
Center for Medical Experiments, Third Xiangya Hospital of Central South University, Changsha, China.
Acta Haematol. 2018;140(2):77-86. doi: 10.1159/000492024. Epub 2018 Sep 18.
BACKGROUND/AIMS: Hereditary spherocytosis (HS) is a common pediatric hemolytic anemia caused by congenital red blood cell defects. HS due to ankyrin 1 (ANK1) mutations is the most common type. We explored an ANK1 mutation from an HS patient and reviewed the literature.
We detected the mutation in a Chinese family in which 2 members were diagnosed with HS by next-generation sequencing. The proband was diagnosed with HS in the newborn period, based on clinical manifestations, laboratory data, and family history. The mutation spectrum of the ANK1 gene was summarized based on 85 patients diagnosed with HS carrying ANK1 mutations, and the ANK1 mutation spectrum was summarized and analyzed.
We identified a novel mutation affecting ANK1 gene splicing (a splicing mutation) in both the patient and her mother, which is a substitution of T>G 2 nt after exon 25 in intron 26. The study expands our knowledge of the ANK1 gene mutation spectrum, providing a molecular basis for HS.
A novel ANK1 mutation (NM_000037.3, c.2960+2T>G, intron 26) that is potentially associated with HS was identified. To date, 80 ANK1 mutations have been reported to be associated with HS in humans.
背景/目的：遗传性球形红细胞增多症（HS）是一种由先天性红细胞缺陷引起的常见小儿溶血性贫血。由锚蛋白1（ANK1）突变导致的HS是最常见的类型。我们研究了一名HS患者的ANK1突变并复习了相关文献。
我们通过下一代测序检测了一个中国家庭中的突变，该家庭中有2名成员被诊断为HS。先证者根据临床表现、实验室数据和家族史在新生儿期被诊断为HS。基于85例诊断为携带ANK1突变的HS患者总结了ANK1基因的突变谱，并对ANK1突变谱进行了总结和分析。
我们在患者及其母亲中均鉴定出一种影响ANK1基因剪接的新突变（剪接突变），即内含子26中外显子25后2个核苷酸的T>G替换。该研究扩展了我们对ANK1基因突变谱的认识，为HS提供了分子基础。
鉴定出一种可能与HS相关的新ANK1突变（NM_000037.3，c.2960+2T>G，内含子26）。迄今为止，已有80种ANK1突变被报道与人类HS相关。
