Das Wolcott-Rallison-Syndrom ist eine autosomal rezessive Errkankung, die durch Mutationen im EIF2AK3-Gen ausgelöst wird. Neben einem frühzeitig auftretenden Diabetes melitus ist sie durch epiphyseale Dysplasie gekennzeichnet.
Permanenter neonataler Diabetes mellitus | ||||
ABCC8 | ||||
DEND-Syndrom | ||||
GCK | ||||
INS | ||||
KCNJ11 | ||||
Phosphoribosylpyrophosphat-Synthetase-Überaktivität | ||||
Wolcott-Rallison-Syndrom | ||||
EIF2AK3 | ||||
1. |
al-Gazali LI et al. (1995) Wolcott-Rallison syndrome. |
2. |
Delépine M et al. (2000) EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. |
3. |
Brickwood S et al. (2003) Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3. |
4. |
Durocher F et al. (2006) A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome. |
5. |
Wolcott CD et al. (1972) Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. |
6. |
Stöss H et al. (1982) Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia. |
7. |
Stewart FJ et al. (1996) Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12. |
8. |
Bonthron DT et al. (1998) Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome. |
9. |
Bin-Abbas B et al. (2002) Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism. |
10. |
Bin-Abbas B et al. () Wolcott-Rallison syndrome: clinical, radiological and histological findings in a Saudi child. |
11. |
Orphanet article Orphanet ID 1667 |
12. |
OMIM.ORG article Omim 226980 |