Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene

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MIHÇI E., TURKKAHRAMAN D., Ellard S., Akcurin S., Bircan I.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.4, sa.2, ss.101-103, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 4 Sayı: 2
  • Basım Tarihi: 2012
  • Doi Numarası: 10.4274/jcrpe.619
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.101-103
  • Anahtar Kelimeler: Wolcott-Rallison syndrome, neonatal diabetes, skeletal dysplasia
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and growth retardation. Mutations in the eukaryotic translation initiation factor 2 alpha kinase (EIF2AK3) gene are responsible for this disorder. Here, we describe a boy with neonatal diabetes, diagnosed at 2 months of age, who developed severe growth retardation and a skeletal fracture during the follow-up period. The patient's skeletal X-ray revealed findings of skeletal dysplasia. A clinical diagnosis of WRS was confirmed by the identification of a novel homozygous nonsense mutation (R491X) in exon 9 of the EIF2AK3 gene. The aim of this report is to raise the awareness for Wolcott-Rallison syndrome in cases presenting with isolated neonatal diabetes. This patient demonstrates that the other findings of this syndrome might be obscured by a diagnosis of isolated neonatal diabetes.