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Print ISSN: 1792-0981 Online ISSN: 1792-1015
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April-2019 Volume 17 Issue 4

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Case Report

Wolcott‑Rallison syndrome due to the same mutation in EIF2AK3 (c.205G>T) in two unrelated families: A case report

  • Authors:
    • Ai Huang
    • Haiyan Wei
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, P.R. China
  • Pages: 2765-2768
    |
    Published online on: February 13, 2019
       https://doi.org/10.3892/etm.2019.7268
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Abstract

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes mellitus, skeletal dysplasia and growth retardation. Other associated disorders include severe liver and renal dysfunction, and central hypothyroidism. Mutations in the eukaryotic translation initiation factor 2α kinase 3 (EIF2AK3), which is located at chromosome 2p12, are responsible for this disorder. In the present case report, the case of a 3‑month old boy diagnosed as neonatal diabetes, who had acute liver failure soon afterwards is detailed. This diagnosis was confirmed through the identification of a novel nonsense mutation in exon 1 of EIF2AK3. The aim of the current case report was to raise awareness for patients with WRS with neonatal diabetes mellitus, particularly those with multiple systemic manifestations.
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Copy and paste a formatted citation
Spandidos Publications style
Huang A and Wei H: Wolcott‑Rallison syndrome due to the same mutation in EIF2AK3 (c.205G>T) in two unrelated families: A case report. Exp Ther Med 17: 2765-2768, 2019.
APA
Huang, A., & Wei, H. (2019). Wolcott‑Rallison syndrome due to the same mutation in EIF2AK3 (c.205G>T) in two unrelated families: A case report. Experimental and Therapeutic Medicine, 17, 2765-2768. https://doi.org/10.3892/etm.2019.7268
MLA
Huang, A., Wei, H."Wolcott‑Rallison syndrome due to the same mutation in EIF2AK3 (c.205G>T) in two unrelated families: A case report". Experimental and Therapeutic Medicine 17.4 (2019): 2765-2768.
Chicago
Huang, A., Wei, H."Wolcott‑Rallison syndrome due to the same mutation in EIF2AK3 (c.205G>T) in two unrelated families: A case report". Experimental and Therapeutic Medicine 17, no. 4 (2019): 2765-2768. https://doi.org/10.3892/etm.2019.7268
Copy and paste a formatted citation
x
Spandidos Publications style
Huang A and Wei H: Wolcott‑Rallison syndrome due to the same mutation in EIF2AK3 (c.205G>T) in two unrelated families: A case report. Exp Ther Med 17: 2765-2768, 2019.
APA
Huang, A., & Wei, H. (2019). Wolcott‑Rallison syndrome due to the same mutation in EIF2AK3 (c.205G>T) in two unrelated families: A case report. Experimental and Therapeutic Medicine, 17, 2765-2768. https://doi.org/10.3892/etm.2019.7268
MLA
Huang, A., Wei, H."Wolcott‑Rallison syndrome due to the same mutation in EIF2AK3 (c.205G>T) in two unrelated families: A case report". Experimental and Therapeutic Medicine 17.4 (2019): 2765-2768.
Chicago
Huang, A., Wei, H."Wolcott‑Rallison syndrome due to the same mutation in EIF2AK3 (c.205G>T) in two unrelated families: A case report". Experimental and Therapeutic Medicine 17, no. 4 (2019): 2765-2768. https://doi.org/10.3892/etm.2019.7268
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