Case

WFS1 loss of function

Age (years)

Sex

Family history

DM, age of diagnosis

OA, age of diagnosis

HI, age of diagnosis

Other features, age of diagnosis

Reference

Homozygous, Frameshift (p.A214SfsX72)

+

30

F

Negative

Type I, 3 years

Bilateral, 7 years

Bilateral, 20 years

Abnormal MRI: cerebellar ataxia

Dysuria and intermittent urinary incontinence

Gastro duodenal hypokinesia

Our study

Homozygous, Frameshift (F883fsX951)

+

42

M

Negative

?, 8 years

?,12 years

?, 10 years

Abnormal EEG

[21]

Heterozygous Frameshift (F883fsX950)

+

20

F

Negative

?, 7 years

?, 11 years

?,13 years

Cataract

[21]

Homozygous, nonsense (p.Q486X)

+

35

M

Negative

?, 7 years

Bilateral, 10 years

Ability deceased in the late third decade of life, 30 years

Hydronephrosis and hydroureter

Hyperreflexia in the lower limbs

[34]

Heterozygous, nonsense (p.Q194X)

+

31

F

Negative

?, 5 years

?, 16 years

?,?

Retarded puberty

Cataract diabetic retinopathy

[18]

Compound heterozygous, missense (p.F350I + p.G674R)

-

42

M

Negative

Type I, 28 years

Bilateral, 42 years

Bilateral

No

[10]

Heterozygous, missense (p.H313Y)

-

24

M

Negative

Type I, 10 years

Bilateral, 24 years

Bilateral, 2.5 years

Left-sides glaucoma, 24 years

[10]