Clin Chim Acta 2021 May 9;516:157-168. Epub 2021 Feb 9.
Department of Pediatric Endocrinology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, 9677 Jingshi Road, Lixia Area, Jinan, Shandong 250021, China; Department of Pediatric Endocrinology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 9677 Jingshi Road, Lixia Area, Jinan, Shandong 250021, China. Electronic address:
Background And Aims: Thiamine-responsive megaloblastic anemia (TRMA), caused by SLC19A2 loss-of-function variants, is characterized by the triad of megaloblastic anemia, progressive sensorineural deafness, and non-type 1 diabetes mellitus. Here, we present the case of a Chinese infant with two novel variants segregating in compound heterozygous form in SLC19A2 and reviewed genotype-phenotype associations (GPAs) in patients with TRMA.
Materials And Methods: Whole-exome sequencing was performed to establish a genetic diagnosis. Read More