Luo Juan, Guo Hongxi, Feng Lifang, Yang Luhong, Chen Xiaoqian, Du Tingting, Hu Man, Yao Hui, Chen Xiaohong
Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Department of General Surgery, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Front Genet. 2022 Aug 12;13:951007. doi: 10.3389/fgene.2022.951007. eCollection 2022.
Transcobalamin (TC) deficiency is a rare autosomal recessive disease characterized by megaloblastic anemia. It is caused by cellular vitamin B12 depletion, which subsequently results in elevated levels of homocysteine and methylmalonic acid. This disease is usually diagnosed by genetic analysis of the gene. Here, we described a 2.2-month-old Chinese girl with TC deficiency presenting with diarrhea, fever and poor feeding. Whole-exome sequencing detected a pair of compound-heterozygous mutations in gene, c.754-12C>G and c.1031_1032delGA (p.R344Tfs*20). To our knowledge, it is the first time that they were identified and reported in TC deficiency. This study contributes to a better understanding of the TC deficiency, expanding the spectrum of mutations in this disorder and also supporting the early diagnosis and proper treatment of similar cases in the future.
转钴胺素（TC）缺乏症是一种罕见的常染色体隐性疾病，其特征为巨幼细胞贫血。它是由细胞内维生素B12缺乏引起的，随后导致同型半胱氨酸和甲基丙二酸水平升高。这种疾病通常通过对该基因的基因分析来诊断。在此，我们描述了一名2.2个月大的患有TC缺乏症的中国女孩，她出现腹泻、发热和喂养困难。全外显子测序在该基因中检测到一对复合杂合突变，即c.754 - 12C>G和c.1031_1032delGA（p.R344Tfs*20）。据我们所知，这是首次在TC缺乏症中鉴定并报道这些突变。本研究有助于更好地理解TC缺乏症，扩展该疾病的突变谱，也为未来类似病例的早期诊断和恰当治疗提供支持。
