Table 1.
Clinical characteristics of patients
| Patient ID |
|||||
|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | |
| Birth weight (g)/gestation (weeks) |
1,570/31 (SDS −0.23, centile 40.58) |
2,500/40 (SDS −2.07, centile 1.9) |
3,010/38 (SDS −0.28, centile 39.09) |
2,400/41 (SDS −2.69, centile 0.35) |
2,670/40 (SDS −1.89, centile 2.96) |
| Sex |
Male |
Female |
Male |
Female |
Male |
| WFS1 mutations |
p.Glu809Lys (c.2425G>A) |
p.Glu809Lys (c.2425G>A) |
p.Glu809Lys (c.2425G>A) |
p.Glu830Ala (c.2489A>C) |
p.His313Tyr (c.937C>T) |
| De novo |
Yes |
Yes |
Maternal sample N/A |
Yes |
Yes |
| Age at last assessment |
Deceased (2 years) |
1.5 years |
8 years |
8 years |
15 months |
| Diabetes |
Yes |
Yes |
Yes |
Yes |
Yes |
| Age at diabetes diagnosis (weeks) |
13 |
24 |
50 |
35 |
36 |
| Insulin dose (units/kg/day) |
0.5–0.6 |
2 |
0.75–0.94 |
0.5–0.6 |
0.18 |
| HbA1c (%) |
6.8 |
7.2 |
7–10.2 |
7 |
10.1 |
| Cataracts |
Yes, congenital |
Yes, congenital |
Yes (age 2.5 years) |
Yes, congenital |
No |
| Glaucoma |
No |
Yes, congenital |
No |
Yes, congenital |
No |
| Other eye abnormalities |
Micropthalmia, bilateral microcornea, and iris coloboma |
Optic atrophy secondary to congenital glaucoma |
Optic atrophy at age 3.1 years |
— |
No |
| Deafness |
Yes, sensorineural (diagnosed at age 1 year) |
Yes, sensorineural (diagnosed at age 18 months) |
Yes (congenital) |
Yes, sensorineural (congenital) |
Yes, sensorineural (congenital) |
| Dysmorphic features |
Yes |
Yes |
— |
Yes (possibly due to facial hypotonia) |
No |
| Hypotonia |
Yes (generalized) |
Yes (limbs) |
— |
Yes |
Yes |
| Additional features | Bilateral club feet, left thumb contracture, asymmetrical ventricles on CT scan L>R | Microcephaly, widely spaced lateral ventricles on CT scan, clinodactyly | Hypothyroidism (12 months), motor and intellectual developmental delay | Subclinical hypothyroidism, growth hormone deficiency | No |
SDS, standard deviation score.