Table 2

Reported human cases of Wolcott-Rallison syndrome and transgenic mouse models

**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 DM6 w8 w6 w4 w3 w5 w10 w8 w2 w12 w4 d§30 m<6 m<6 m8 w2–4 w∼3 w†Hypoglycaemia
Epiphyseal dysplasia+++++++++++++++
Liver dysfunction++++NoNo+
Renal abnormalities+++++No
Birth weight (kg)3.252.803.031.10§NormalNormalNormal
Clinical exocrine pancreas deficiency+No++No
Pancreatic hypoplasia/hypotrophy+++NoNoNo
Cardiac abnormality/murmur+++++No
Epilepsy (clinical/EEG)++++NoNoNo
Death2 y6 w11 y<15 y4 y2 y5 m¶If untreated¶If untreated