Wolcott-Rallison syndrome is a rare autosomal recessive condition first described in 1972. It is characterised by diabetes mellitus which arises in early infancy and multiple epiphyseal dysplasia. Wolcott-Rallison syndrome is caused by mutation in the EIF2AK3 gene (MIM.604032), which encodes translation initiation factor 2-alpha kinase-3.
Synopsis
hepatic failure
abnormal pancreatic histology
anomalies of the central nervous system
anomalies of the cardio-respiratory system
- pulmonary hypoplasia
- enlarged heart
- mitral valve dysplasia
- mitral valve stenosis
- left atrial dilatation
- left ventricular hypertrophy
- endocardial fibroelastosis
recurrent episodes of self-limiting hepatic failure
pancreati anomalies
- severe pancreatic hypoplasia
- neonatal diabetes mellitus
laryngeal stenosis
isolated central hypothyroidism (12210348)
epiphyseal dysplasia
central nervous system
- arrhinencephaly
- cerebellar cortical dysplasia
- mental retardation
Etiology
germline mutation in the EIF2AK3 gene (MIM.604032), encoding translation initiation factor 2-alpha kinase-3.
Associations
deletion at 15q11-12 (8737981)
See also
endoplasmic reticulum
- endoplasmic reticulum stress
References
Thornton CM, Carson DJ, Stewart FJ. Autopsy findings in the Wolcott-Rallison syndrome. Pediatr Pathol Lab Med. 1997 May-Jun;17(3):487-96. PMID: 9185226
Stewart FJ, Carson DJ, Thomas PS, Humphreys M, Thornton C, Nevin NC. Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12. Clin Genet. 1996 Mar;49(3):152-5. PMID: 8737981