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

Huang,Ai; Wei,Haiyan

doi:10.3892/etm.2019.7268

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
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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
Published online on: February 13, 2019 https://doi.org/10.3892/etm.2019.7268
Pages: 2765-2768

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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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