TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report

Abstract Background Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. To date, only 100 cases of TRMA have been reported in the world. Case presen...

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Main Authors:	Xin Li, Qing Cheng, Yu Ding, Qun Li, Ruen Yao, Jian Wang, Xiumin Wang
Format:	Article
Language:	English
Published:	BMC 2019-07-01
Series:	BMC Pediatrics
Subjects:	Thiamine-responsive megaloblastic anemia SLC19A2 gene Novel mutation Diabetes Deafness
Online Access:	http://link.springer.com/article/10.1186/s12887-019-1608-2

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spelling	doaj-b19e716a0e1241fa970ee8d10096061b2020-11-25T03:33:00ZengBMCBMC Pediatrics1471-24312019-07-011911610.1186/s12887-019-1608-2TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case reportXin Li0Qing Cheng1Yu Ding2Qun Li3Ruen Yao4Jian Wang5Xiumin Wang6Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of MedicineDepartment of Endocrinology and Metabolism, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of MedicineDepartment of Endocrinology and Metabolism, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of MedicineDepartment of Endocrinology and Metabolism, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of MedicineDepartment of Medical Genetics and Molecular Diagnostics, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of MedicineDepartment of Medical Genetics and Molecular Diagnostics, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of MedicineDepartment of Endocrinology and Metabolism, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of MedicineAbstract Background Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. To date, only 100 cases of TRMA have been reported in the world. Case presentation Here, we describe a six-year-old boy with diabetes mellitus, anemia, and deafness. Additionally, he presented with thrombocytopenia, leukopenia, horizontal nystagmus, hepatomegaly, short stature, ventricular premature beat (VPB), and cerebral infarction. DNA sequencing revealed a novel compound heterozygous mutation in the SLC19A2 gene: (1) a duplication c.405dupA, p.Ala136Serfs3 (heterozygous) and (2) a nucleotide deletion c.903delG p.Trp301Cysfs13 (heterozygous). The patient was diagnosed with a typical TRMA. Conclusion Novel mutations in the SLC19A2 gene have been identified, expanding the mutation spectrum of the SLC19A2 gene. For the first time, VPB and cerebral infarction have been identified in patients with TRMA syndrome, providing a new understanding of the phenotype.http://link.springer.com/article/10.1186/s12887-019-1608-2Thiamine-responsive megaloblastic anemiaSLC19A2 geneNovel mutationDiabetesDeafness
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Xin Li Qing Cheng Yu Ding Qun Li Ruen Yao Jian Wang Xiumin Wang
spellingShingle	Xin Li Qing Cheng Yu Ding Qun Li Ruen Yao Jian Wang Xiumin Wang TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report BMC Pediatrics Thiamine-responsive megaloblastic anemia SLC19A2 gene Novel mutation Diabetes Deafness
author_facet	Xin Li Qing Cheng Yu Ding Qun Li Ruen Yao Jian Wang Xiumin Wang
author_sort	Xin Li
title	TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report
title_short	TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report
title_full	TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report
title_fullStr	TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report
title_full_unstemmed	TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report
title_sort	trma syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous slc19a2 mutation: a case report
publisher	BMC
series	BMC Pediatrics
issn	1471-2431
publishDate	2019-07-01
description	Abstract Background Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. To date, only 100 cases of TRMA have been reported in the world. Case presentation Here, we describe a six-year-old boy with diabetes mellitus, anemia, and deafness. Additionally, he presented with thrombocytopenia, leukopenia, horizontal nystagmus, hepatomegaly, short stature, ventricular premature beat (VPB), and cerebral infarction. DNA sequencing revealed a novel compound heterozygous mutation in the SLC19A2 gene: (1) a duplication c.405dupA, p.Ala136Serfs3 (heterozygous) and (2) a nucleotide deletion c.903delG p.Trp301Cysfs13 (heterozygous). The patient was diagnosed with a typical TRMA. Conclusion Novel mutations in the SLC19A2 gene have been identified, expanding the mutation spectrum of the SLC19A2 gene. For the first time, VPB and cerebral infarction have been identified in patients with TRMA syndrome, providing a new understanding of the phenotype.
topic	Thiamine-responsive megaloblastic anemia SLC19A2 gene Novel mutation Diabetes Deafness
url	http://link.springer.com/article/10.1186/s12887-019-1608-2
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TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report

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