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- Title
Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency.
- Authors
Juan Luo; Hongxi Guo; Lifang Feng; Luhong Yang; Xiaoqian Chen; Tingting Du; Man Hu; Hui Yao; Xiaohong Chen
- Abstract
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 TCN2 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 compoundheterozygous mutations in TCN2 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 TCN2 mutations in this disorder and also supporting the early diagnosis and proper treatment of similar cases in the future.
- Subjects
GENETIC mutation; VITAMIN B12; METHYLMALONIC acid; PRECOCIOUS puberty; EARLY diagnosis; HOMOCYSTEINE; BLOOD coagulation factor XIII
- Publication
Frontiers in Genetics, 2022, Vol 13, p1
- ISSN
1664-8021
- Publication type
Article
- DOI
10.3389/fgene.2022.951007