title: Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
abstract: Thiamine-responsive megaloblastic anemia (TRMA) or Roger syndrome is a rare autosomal recessive disorder characterized by the occurrence of multiple clinical manifestations including megaloblastic anemia, diabetes mellitus, and sensorineural deafness. A few patients have been also described with congenital cardiac malformations. The patients usually respond to treatment with pharmacological doses of thiamine. Mutations in the SLC19A2 gene, located at chromosome 1q24.2, are responsible for this syndrome. Here, we present two new Iranian TRMA patients who were homozygous for c.697C > T mutation in the SLC19A2 gene. On follow-up, one of the patients showed Ebstein anomaly.
  
  
  CONCLUSIONS
  The present study confirms the variability of the clinical manifestations caused by the same mutation within patients with TRMA syndrome. Therefore, follow-up of the affected children should be considered.
authors.affiliation: Department of Medical Genetics, Tarbiat Modares University, Al-Ahmad Expressway, Tehran, Iran, mtakbari@modares.ac.ir.
authors.forename: Mohammad Taghi
authors.initials: MT
authors.lastname: Akbari
authors.forename: Shohreh
authors.initials: S
authors.lastname: Zare Karizi
authors.forename: Reza
authors.initials: R
authors.lastname: Mirfakhraie
authors.forename: Bijan
authors.initials: B
authors.lastname: Keikhaei
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000749:Anemia, Megaloblastic / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D003937:Diagnosis, Differential; D004437:Ebstein Anomaly / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D004452:Echocardiography; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007655:Ketoglutarate Dehydrogenase Complex / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D013832:Thiamine Deficiency / Q000151:congenital
chemical_list: D026901:Membrane Transport Proteins; C120043:SLC19A2 protein, human; D004247:DNA; D007655:Ketoglutarate Dehydrogenase Complex