A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia
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چکیده
منابع مشابه
Novel mutation in the SLC19A2 gene in Thiamine-responsive megaloblastic anemia (Rogers’ syndrome)
Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA. This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive megaloblastic anemia (TRMA) or Rogers' syndrome....
متن کاملThiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest.
To the Editor: Thiamine responsive megaloblastic anemia (TRMA) syndrome is caused by the deficiency of thiamine transporter protein is a triad of diabetes mellitus, anemia, and deafness [1]. The only gene known to be associated with TRMA is SLC19A2, which encodes the high-affinity thiamine transporter [2]. A total of 28 mutations in the SLC19A2 gene have been reported in 70 patients [3]. We rep...
متن کاملNovel Mutation in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia: A Series of Three Cases
Thiamine-responsive megaloblastic anemia (TRMA) is a clinical triad characterized by megaloblastic anemia, non-autoimmune diabetes mellitus, and sensory-neural hearing loss. Mutations in the thiamine transporter gene, solute carrier family 19, member 2 (SLC19A2), have been associated with TRMA. Three pediatric patients from a large consanguineous Iranian family with hyperglycemia, anemia, and h...
متن کاملIdentification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia
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...
متن کاملInfantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.
BACKGROUND Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene. CASE PRESENTATION We report a girl which presented with sensorineura...
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ژورنال
عنوان ژورنال: Cellular Physiology and Biochemistry
سال: 2018
ISSN: 1015-8987,1421-9778
DOI: 10.1159/000491467