NDLI: Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified

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Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Mikstiene, Violeta Songailiene, Jurgita Byckova, Jekaterina Rutkauskiene, Giedre Jasinskiene, Edita Verkauskiene, Rasa Lesinskas, Eugenijus Utkus, Algirdas
Spatial Coverage	Lithuania
Description	Country affiliation: Lithuania Author Affiliation: Mikstiene V ( Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.); Songailiene J ( Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.); Byckova J ( Centre of Ear, Nose and Throat Diseases, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania.); Rutkauskiene G ( Pediatric Oncology and Hematology Unit, Hospital of Lithuanian university of Health Sciences, Kaunas Clinics, Kaunas, Lithuania.); Jasinskiene E ( Department of Endocrinology, Hospital of Lithuanian University of Health Science, Kaunas Clinics, Kaunas, Lithuania.); Verkauskiene R ( Department of Endocrinology, Hospital of Lithuanian University of Health Science, Kaunas Clinics, Kaunas, Lithuania.); Lesinskas E ( Centre of Ear, Nose and Throat Diseases, Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania.); Utkus A ( Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.)
Abstract	Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive disorder especially in countries where consanguinity is uncommon. Three main features are characteristic of the disease – megaloblastic anemia, early onset deafness, and non-type I diabetes. TRMAS is a Mendelian disorder; a gene SLC19A2 coding high affinity thiamine transporter mediating vitamin B1 uptake through cell membrane has been identified. We present the first patient with TRMAS in Lithuania – a 3-year-old boy born to a non-consanguineous family with a novel homozygous SLC19A2 gene mutation. The patient had insulin dependent diabetes (onset 11 months), respiratory illness (onset 11 months), bilateral profound hearing loss (onset at 7 months, verified at 20 months), refractory anemia (onset 2 years), and decreased vision acuity and photophobia (onset 2.5 years). The psychomotor abilities developed according to age. Phenotypic evaluation did not reveal any dysmorphic features. The clinical diagnosis of TRMAS was suspected and daily supplementation with thiamine 100 mg was started. The condition of the patient markedly improved several days after the initiation of treatment. The results of SLC19A2 gene molecular testing confirmed the clinical diagnosis – novel homozygous c.[205G>T], p.[(Val69Phe)] mutation changing conserved amino acid residue or even interfering the mRNA splicing. Clinical heterogeneity, diverse dynamics, and wide spectrum of symptoms are aggravating factors in the diagnosis. The possibility of treatment demands early recognition of disorder to facilitate the improvement of the patient's condition. © 2015 Wiley Periodicals, Inc.
File Format	HTM / HTML
ISSN	15524825
Issue Number	7
Volume Number	167
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2015-07-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Anemia, Megaloblastic Drug Therapy Genetics Diabetes Mellitus Hearing Loss, Sensorineural Membrane Transport Proteins Mutation, Missense Thiamine Deficiency Congenital Thiamine Therapeutic Use Base Sequence Child, Preschool Homozygote Humans Lithuania Male Molecular Sequence Data Sequence Analysis, Dna Treatment Outcome Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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