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      Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.

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          Abstract

          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.

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          Author and article information

          Journal
          Clin Chim Acta
          Clinica chimica acta; international journal of clinical chemistry
          Elsevier BV
          1873-3492
          0009-8981
          May 2021
          : 516
          Affiliations
          [1 ] Department of Pediatric Endocrinology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, 9677 Jingshi Road, Lixia Area, Jinan, Shandong 250021, China. Electronic address: zslsdusom@163.com.
          [2 ] 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: qiaoyufish@126.com.
          [3 ] 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: wzm0485@163.com.
          [4 ] 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: cathy65@163.com.
          [5 ] 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: sunyan6150@126.com.
          [6 ] 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: 18053157315@163.com.
          [7 ] 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: liguimei2013@126.com.
          Article
          S0009-8981(21)00041-3
          10.1016/j.cca.2021.01.025
          33571483
          fabbf230-efac-4e4b-9ced-ad23a53fd8b1
          History

          Thiamine-responsive megaloblastic anemia syndrome,Neonatal diabetes,SLC19A2,Genotype-phenotype association

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