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. 2017 May 3;66(7):2044–2053. doi: 10.2337/db16-1296

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.