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First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.
Pediatr Diabetes. 2017 Dec; 18(8):844-847.PD

Abstract

Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations have been reported for the gene encoding a plasma membrane thiamine transporter protein (THTR-1). TRMA has been reported in less than 80 cases worldwide. Here, we illustrate 2 female patients with TRMA first diagnosed in the Czech Republic and in central Europe being confirmed by sequencing of the THTR-1 gene SLC19A2. Both subjects are compound heterozygotes with 3 different mutations in the SLC19A2 gene. In case 2, the SLC19A2 intron 1 mutation c.204+2T>G has never been reported before. TRMA subjects are at risk of diabetic ketoacidosis during intercurrent disease and arrythmias. Thiamine supplementation has prevented hematological disorders over a few years in both pediatric subjects, and improved glycaemic control of diabetes mellitus. Patient 1 was suffering from hearing loss and rod-cone dystrophy at the time of diagnosis, however, she was unresponsive to thiamine substitution. Our patient 2 developed the hearing loss despite the early thiamine substitution, however no visual disorder had developed. The novel mutation described here extends the list of SLC19A2 mutations causing TRMA.

Authors+Show Affiliations

Department of Paediatrics, Faculty of Medicine in Pilsen, Charles University, Prague, Czech Republic.Department of Paediatrics, Faculty of Medicine in Pilsen, Charles University, Prague, Czech Republic.Department of Paediatrics, Faculty of Medicine in Pilsen, Charles University, Prague, Czech Republic.Department of Paediatrics, Faculty of Medicine in Pilsen, Charles University, Prague, Czech Republic.Department of Paediatrics, Faculty of Medicine in Pilsen, Charles University, Prague, Czech Republic.Department of Paediatrics, Faculty of Medicine in Pilsen, Charles University, Prague, Czech Republic.Department of Paediatrics, Faculty of Medicine in Pilsen, Charles University, Prague, Czech Republic.Department of Paediatrics, Faculty of Medicine in Pilsen, Charles University, Prague, Czech Republic.Department of Paediatrics, Faculty of Medicine in Pilsen, Charles University, Prague, Czech Republic.Institute of Medical Genetics, Faculty of Medicine in Pilsen, Charles University, Prague, Czech Republic.Department of Neonatology, Faculty of Medicine in Pilsen, Charles University, Prague, Czech Republic.Department of Neonatology, Faculty of Medicine in Pilsen, Charles University, Prague, Czech Republic.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

28004468

Citation

Pomahačová, Renata, et al. "First 2 Cases With Thiamine-responsive Megaloblastic Anemia in the Czech Republic, a Rare Form of Monogenic Diabetes Mellitus: a Novel Mutation in the Thiamine Transporter SLC19A2 Gene-intron 1 Mutation C.204+2T>G." Pediatric Diabetes, vol. 18, no. 8, 2017, pp. 844-847.
Pomahačová R, Zamboryová J, Sýkora J, et al. First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G. Pediatr Diabetes. 2017;18(8):844-847.
Pomahačová, R., Zamboryová, J., Sýkora, J., Paterová, P., Fiklík, K., Votava, T., Černá, Z., Jehlička, P., Lád, V., Šubrt, I., Dort, J., & Dortová, E. (2017). First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G. Pediatric Diabetes, 18(8), 844-847. https://doi.org/10.1111/pedi.12479
Pomahačová R, et al. First 2 Cases With Thiamine-responsive Megaloblastic Anemia in the Czech Republic, a Rare Form of Monogenic Diabetes Mellitus: a Novel Mutation in the Thiamine Transporter SLC19A2 Gene-intron 1 Mutation C.204+2T>G. Pediatr Diabetes. 2017;18(8):844-847. PubMed PMID: 28004468.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G. AU - Pomahačová,Renata, AU - Zamboryová,Jana, AU - Sýkora,Josef, AU - Paterová,Petra, AU - Fiklík,Karel, AU - Votava,Tomáš, AU - Černá,Zdeňka, AU - Jehlička,Petr, AU - Lád,Václav, AU - Šubrt,Ivan, AU - Dort,Jiří, AU - Dortová,Eva, Y1 - 2016/12/22/ PY - 2016/07/02/received PY - 2016/08/10/revised PY - 2016/11/01/accepted PY - 2016/12/23/pubmed PY - 2018/7/13/medline PY - 2016/12/23/entrez KW - SLC19A2 gene KW - diabetes mellitus KW - diabetic ketoacidosis KW - sensorineural deafness KW - thiamine transporter KW - thiamine-responsive megaloblastic anemia SP - 844 EP - 847 JF - Pediatric diabetes JO - Pediatr Diabetes VL - 18 IS - 8 N2 - Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations have been reported for the gene encoding a plasma membrane thiamine transporter protein (THTR-1). TRMA has been reported in less than 80 cases worldwide. Here, we illustrate 2 female patients with TRMA first diagnosed in the Czech Republic and in central Europe being confirmed by sequencing of the THTR-1 gene SLC19A2. Both subjects are compound heterozygotes with 3 different mutations in the SLC19A2 gene. In case 2, the SLC19A2 intron 1 mutation c.204+2T>G has never been reported before. TRMA subjects are at risk of diabetic ketoacidosis during intercurrent disease and arrythmias. Thiamine supplementation has prevented hematological disorders over a few years in both pediatric subjects, and improved glycaemic control of diabetes mellitus. Patient 1 was suffering from hearing loss and rod-cone dystrophy at the time of diagnosis, however, she was unresponsive to thiamine substitution. Our patient 2 developed the hearing loss despite the early thiamine substitution, however no visual disorder had developed. The novel mutation described here extends the list of SLC19A2 mutations causing TRMA. SN - 1399-5448 UR - https://www.unboundmedicine.com/medline/citation/28004468/First_2_cases_with_thiamine_responsive_megaloblastic_anemia_in_the_Czech_Republic_a_rare_form_of_monogenic_diabetes_mellitus:_a_novel_mutation_in_the_thiamine_transporter_SLC19A2_gene_intron_1_mutation_c_204+2T>G_ L2 - https://doi.org/10.1111/pedi.12479 DB - PRIME DP - Unbound Medicine ER -