Ontology highlight
ABSTRACT:
SUBMITTER: Jungtrakoon P
PROVIDER: S-EPMC6477897 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Jungtrakoon Prapaporn P Shirakawa Jun J Buranasupkajorn Patinut P Gupta Manoj K MK De Jesus Dario F DF Pezzolesi Marcus G MG Panya Aussara A Hastings Timothy T Chanprasert Chutima C Mendonca Christine C Kulkarni Rohit N RN Doria Alessandro A
Diabetes 20190304 5
Solute Carrier Family 19 Member 2 (<i>SLC19A2</i>) encodes thiamine transporter 1 (THTR1), which facilitates thiamine transport across the cell membrane. <i>SLC19A2</i> homozygous mutations have been described as a cause of thiamine-responsive megaloblastic anemia (TRMA), an autosomal recessive syndrome characterized by megaloblastic anemia, diabetes, and sensorineural deafness. Here we describe a loss-of-function <i>SLC19A2</i> mutation (c.A1063C: p.Lys355Gln) in a family with early-onset diabe ...[more]