Results 121 to 130 of about 563,023 (137)

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

Nature Genetics, 1999
Thiamine-responsive megaloblastic anaemia (TRMA), also known as Rogers syndrome, is an early onset, autosomal recessive disorder defined by the occurrence of megaloblastic anaemia, diabetes mellitus and sensorineural deafness, responding in varying degrees to thiamine treatment (MIM 249270).
V, Labay, T, Raz, D, Baron, H, Mandel, H, Williams, T, Barrett, R, Szargel, L, McDonald, A, Shalata, K, Nosaka, S, Gregory, N, Cohen   +11 more
openaire   +2 more sources

Recovered Insulin Production After Thiamine Administration in Permanent Neonatal Diabetes Mellitus With a Novel Solute Carrier Family 19 Member 2 (SLC19A2) Mutation.

Journal of Diabetes, 2018
Solute carrier family 19 member 2 (SLC19A2) gene deficiency is one of the causes of permanent neonatal diabetes mellitus (PNDM) and can be effectively managed by thiamine supplementation. Herein we report on a male patient with a novel SLC19A2 mutation and summarize the clinical characteristics of patients with SLC19A2 deficiency.The genetic diagnosis ...
Chengjun Sun, Feihong Luo, Lin Yang
exaly   +2 more sources

The Spectrum of Mutations, Including Four Novel Ones, in the Thiamine-Responsive Megaloblastic Anemia Gene SLC19A2 of Eight Families

Human Mutation, 2000
Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder with a triad of symptoms: megaloblastic anemia, deafness, and non-type 1 diabetes mellitus. Occasionally, cardiac abnormalities and abnormalities of the optic nerve and retina occur as well.
Marcos Borato Viana, Hanna Mandel, Jean-Michel Cayuela   +2 more
exaly   +3 more sources

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

American Journal of Medical Genetics Part A, 2015
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
Violeta, Mikstiene, Jurgita, Songailiene, Jekaterina, Byckova, Giedre, Rutkauskiene, Edita, Jasinskiene, Rasa, Verkauskiene, Eugenijus, Lesinskas, Algirdas, Utkus   +7 more
openaire   +2 more sources

Novel mutation in the SLC19A2 gene in Thiamine-responsive megaloblastic anemia (Rogers’ syndrome)

2012
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 ...
Ghaemi, Nosrat, Ghahraman, Martha, Abbaszadegan, Mohammad Reza, Vakili, Rahim   +3 more
openaire   +1 more source

Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis

American Journal of Physiology-Gastrointestinal and Liver Physiology, 2002
SLC19A2 is a membrane thiamine transporter expressed in a variety of human tissues, including the gastrointestinal tract. Little is currently known about the structure/function relationship of SLC19A2. We examined the effect of introducing mutations in SLC19A2 identical to those found in thiamine-responsive megaloblastic anemia syndrome (TRMA), on ...
Krishnaswamy, Balamurugan, Hamid M, Said
openaire   +2 more sources

Novel mutation in the SLC19A2 gene in an African‐American female with thiamine‐responsive megaloblastic anemia syndrome

American Journal of Medical Genetics Part A, 2003
AbstractThiamine‐responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive disorder characterized by diabetes mellitus (DM), progressive sensorineural deafness, and thiamine‐responsive anemia. Mutations in the SLC19A2 gene encoding a high‐affinity thiamine transporter protein THTR‐1 are responsible for the clinical features associated ...
William H, Lagarde, Louis E, Underwood, Billie M, Moats-Staats, Ali S, Calikoglu   +3 more
openaire   +2 more sources

Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation

Journal of Pediatric Genetics, 2020
AbstractThiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder characterized by the development of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report on the first two Croatian patients with TRMA, compound heterozygotes for nonsense, c.373C > T; p.(Gln125Ter) and novel missense variant, c.1214C &
Spehar Uroic, Anita, Milenkovic, Dragan, De Franco, Elisa, Bilic, Ernest, Rojnic Putarek, Natasa, Krnic, Nevena   +5 more
openaire   +2 more sources

Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient

Clinica Chimica Acta, 2016
Thiamine-responsive megaloblastic anemia (TRMA), an autosomal recessive disorder, is caused by mutations in SLC19A2 gene encodes a high affinity thiamine transporter (THTR-1). The occurrence of TRMA is diagnosed by megaloblastic anemia, diabetes mellitus, and sensorineural deafness.
Paramasivam Manimaran, Veedamali S. Subramanian, Sellamuthu Karthi, Krishnan Gandhimathi, Perumal Varalakshmi, Ramasamy Ganesh, Andiappan Rathinavel, Hamid M. Said, Balasubramaniem Ashokkumar   +8 more
openaire   +2 more sources

First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G

Pediatric Diabetes, 2016
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations have been reported for the gene encoding a plasma membrane thiamine transporter protein (THTR-1). TRMA has been reported in less than 80 cases worldwide. Here, we illustrate 2 female patients with
Renata, Pomahačová, Jana, Zamboryová, Josef, Sýkora, Petra, Paterová, Karel, Fiklík, Tomáš, Votava, Zdeňka, Černá, Petr, Jehlička, Václav, Lád, Ivan, Šubrt, Jiří, Dort, Eva, Dortová   +11 more
openaire   +2 more sources