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. 2019 Apr;17(4):2765-2768.
doi: 10.3892/etm.2019.7268. Epub 2019 Feb 13.

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

Ai Huang  1 , Haiyan Wei  1
Affiliations

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

Ai Huang et al. Exp Ther Med. 2019 Apr.

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.

Keywords: Wolcott-Rallison syndrome; eukaryotic translation initiation factor 2α kinase 3; liver failure; neonatal diabetes mellitus.

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Figures

Figure 1.
Figure 1.
Genetic testing results of the patient.
Figure 2.
Figure 2.
Genetic testing results of the patient's father.
Figure 3.
Figure 3.
Genetic testing results of the patient's mother.
Figure 4.
Figure 4.
Genealogy of the patient's family.
See this image and copyright information in PMC

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