Localization of the Thiamine-Responsive Megaloblastic Anemia Syndrome Locus to a 1.4-cM Region of 1q23
نویسندگان
چکیده
منابع مشابه
thiamine– responsive megaloblastic anemia syndrome
thiamine responsive megaloblastic anemia in didmoa (wolfram) syndrome has an autosomal- recessive mode of inheritance . megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (di), diabetes mellitus (dm) ,optic atrophy (oa) and deafness (d). neutropenia and thrombocytopenia are also present. we report a 7 month old girl with congenital macrocytic anemia a rare clinic...
متن کاملThiamine responsive megaloblastic anemia.
This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine. She also had retinitis pigmentosa. The anemia improved and blood sugar was controlled with daily oral thiamine. Previously unreported olfactory abnormalities, as described in Wolfram syndrome, were also present in our...
متن کاملNovel 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 کاملDefective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts.
We have investigated the cellular pathology of the syndrome called thiamine-responsive megaloblastic anemia (TRMA) with diabetes and deafness. Cultured diploid fibroblasts were grown in thiamine-free medium and dialyzed serum. Normal fibroblasts survived indefinitely without supplemental thiamine, whereas patient cells died in 5-14 days (mean 9.5 days), and heterozygous cells survived for more ...
متن کاملMonogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease-associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström, and Thiamine-responsi...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1999
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199904020-00808