ArticleGene2013
Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.
Article in Gene, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 25 citations in OpenAlex.
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.Acta haematologica · 2025Article
- Stroke-like Episodes in Inherited Neurometabolic Disorders.Metabolites · 2022Review
- The Roles of Solute Carriers in Auditory Function.Frontiers in genetics · 2022Review
- TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.BMC pediatrics · 2019Article
- Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes.Diabetes · 2019Article
- Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.Diabetologia · 2018Observational
- Recurrent Stroke in a Child with TRMA Syndrome and SLC19A2 Gene Mutation.Iranian journal of child neurology · 2018Article
- [Advances in genes mutation and pathophysiology of congenital sideroblastic anemia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2016Article
- A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.International journal of pediatric endocrinology · 2015Article
- Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.European journal of pediatrics · 2014Article
- Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.Journal of clinical research in pediatric endocrinology · 2013Article
- Stroke as an Initial Manifestation of Thiamine-Responsive Megaloblastic Anemia.Annals of Indian Academy of NeurologyArticle
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Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
Abstract
Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes, and hearing loss caused by mutations in the SLC19A2 gene. We studied the genetic cause and clinical features of this condition in patients from the Persian population. A clinical and molecular investigation was performed in four patients from three families and their healthy family members. All had the typical diagnostic criteria. The onset of hearing loss in three patients was at birth and one patient also had a stroke and seizure disorder. Thiamine treatment effectively corrected the anemia in all of our patients but did not prevent hearing loss. Diabetes was improved in one patient who presented at the age of 8months with anemia and diabetes after 2months of starting thiamine. The coding regions of SLC19A2 were sequenced in all patients. The identified mutation was tested in all members of the families. Molecular analyses identified a homozygous nonsense mutation c.697C>T (p.Gln233*) as the cause of the disease in all families. This mutation was previously reported in a Turkish patient with TRMA and is likely to be a founder mutation in the Persian population.
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