Reported human cases of Wolcott-Rallison syndrome and transgenic mouse models
| Human | Mouse | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Features | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | Harding | Zhang | |
| * | * | Eif2ak3 −/− | Eif2ak3 −/− | Scheuner Eif2aSer51Ala | ||||||||||||||
| Cases 1–3: cases 1, 2, and 3 (siblings) from Wolcott and Rallison, 1972.1 | ||||||||||||||||||
| Cases 4 and 5: cases 1 and 2 from Goumy et al, 1980.2 | ||||||||||||||||||
| Cases 6 and 7: cases 1 and 2 (siblings) from Stöss et al, 1982.3 | ||||||||||||||||||
| Cases 8 and 9: cases 1* and 2 (siblings) from al-Gazali et al, 1995.4 | ||||||||||||||||||
| Case 10: Stewart et al, 1996;5 Thornton et al, 1997.15 Enlarged kidneys, abnormal shape with minor histological abnormalities. | ||||||||||||||||||
| Case 11:* Bonthron et al, 1998.6 | ||||||||||||||||||
| Case 12: Castelnau et al, 2000.7 | ||||||||||||||||||
| Cases 13 and 14: Delépine et al, 2000.9 Although a diagnosis of Wolcott-Rallison syndrome made in these cases, no clinical description was provided. | ||||||||||||||||||
| Case 15: Biason-Lauber et al, 2001.8 | ||||||||||||||||||
| Where possible a positive phenotypic comment is made, otherwise a box is left blank. An asterisk indicates the cases sequenced in the present study. | ||||||||||||||||||
| §Premature birth at 28 weeks’ gestation. | ||||||||||||||||||
| †The Eif2aSer51Ala mice die of hypoglycaemia in the newborn period, although pancreatic insulin content is significantly reduced. | ||||||||||||||||||
| ¶Death from hyperglycaemia if untreated. | ||||||||||||||||||
| d, day; DM, diabetes mellitus; m, month; w, week; y, year. | ||||||||||||||||||
| Age of onset of DM | 6 w | 8 w | 6 w | 4 w | 3 w | 5 w | 10 w | 8 w | 2 w | 12 w | 4 d§ | 30 m | <6 m | <6 m | 8 w | 2–4 w | ∼3 w | †Hypoglycaemia |
| Epiphyseal dysplasia | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | |||
| Osteoporosis/fractures | + | No | + | No | + | No | + | No | No | + | + | No | + | |||||
| Hypoglycaemia | + | + | + | + | + | + | + | No | No | + | ||||||||
| Liver dysfunction | + | + | + | + | No | No | + | |||||||||||
| Hepatomegaly | + | + | + | + | + | No | ||||||||||||
| Renal abnormalities | + | + | + | + | + | No | ||||||||||||
| Birth weight (kg) | 3.25 | 2.80 | 3.03 | 1.10§ | Normal | Normal | Normal | |||||||||||
| Clinical exocrine pancreas deficiency | + | No | + | + | No | |||||||||||||
| Pancreatic hypoplasia/hypotrophy | + | + | + | No | No | No | ||||||||||||
| Cardiac abnormality/murmur | + | + | + | + | + | No | ||||||||||||
| Epilepsy (clinical/EEG) | + | + | + | + | No | No | No | |||||||||||
| Death | 2 y | 6 w | 11 y | <15 y | 4 y | 2 y | 5 m | ¶If untreated | ¶If untreated | † | ||||||||