Table 1 Features of patients with WNT1 mutations (27 patients from 17 families)

I-1

F

1 y

Severe bone deformities, bilateral ptosis, normal cognition

c.6delG (p.Leu3Serfs*36)

This study

I-2

F

4 mo

Severe bone deformities, blue sclerae, DD, multiple brain anomalies

n/a

This study

II

M

n/a

Brain anomalies, unilateral ptosis, DD

c.184C > T (p.Gln62*)

c.677C > T (p.Ser226Leu)

[4]

III

M

n/a

Thinning of the left temporal bone, ptosis, DD

c.259C > T (p.Gln87*)

c.506dupG (p.Cys170Leufs*6)

[5]

IV

F

5 wk

Type 1 Chairi malformation of tonsillar descent, unilateral ptosis, autism

c.287_ 300delAGTTCCGGAATCGC (p.Gln96Profs*54)

[5]

V-1

M

n/a

Severe bone deformities

c.359-3C > G

[12]

V-2

F

n/a

Severe bone deformities

c.359-3C > G

[12]

VI

F

2 y

Mild bone deformities

c.369A > C (p.Glu123Asp)

c.457 T > G (p.Cys153Gly)

[13]

VII-1

F

17 mo

Normal cognition

c.428G > T (p.Cys143Phe)

[9]

VII-2

M

2 wk

Normal cognition

c.428G > T (p.Cys143Phe)

[9]

VIII

M

1 mo

Bone deformity of lower extremities, normal cognition

c.525_536delCTTCGGCCGCCT

(p.Phe176_Leu179del)

[15]

IX

F

2 mo

Severe bone deformities, blue sclerae, normal cognition

c.529G > T (p.Gly177Cys)

[3]

X

M

prenatal

Severe bone deformities, normal cognition

c.565G > T (p.Glu189*)

[3]

XI

M

7 mo

Severe bone deformities, normal cognition

c.624 + 4A > G

[3]

XII-1

M

3 mo

Severe bone deformities, normal cognition

c.859dupC (p.His287Profs*30)

[3]

XII-2

F

1 d

Severe bone deformities, blue sclerae, normal cognition

c.859dupC (p.His287Profs*30)

[3]

XII-3

M

prenatal

Severe bone deformities, blue sclerae, DD

c.859dupC (p.His287Profs*30)

[3]

XIII-1

F

1 mo

Normal cognition

c.884C > A (p.Ser295*)

[6]

XIII-2

F

prenatal

Hypoplasia of the left cerebellar hemisphere with short midbrain, Unilateral ptosis, severe DD

c.884C > A (p.Ser295*)

[6]

XIV-1

M

3 h

Severe bone deformities, severe DD

c.884C > A (p.Ser295*)

[5]

XIV-2

M

birth

Severe bone deformities, severe DD, multiple brain malformation

c.884C > A (p.Ser295*)

[5]

XV-1

F

2 y

Blue sclerae, normal cognition

c.893 T > G (p.Phe298Cys)

[5]

XV-2

M

1 y

Normal cognition

c.893 T > G (p.Phe298Cys)

[5]

XVI-1

F

3 d

Severe bone deformities, faint blue sclerae, normal cognition

c.893 T > G (p.Phe298Cys)

[3]

XVI-2

M

1 mo

Severe bone deformities, faint blue sclerae, normal cognition

c.893 T > G (p.Phe298Cys)

[3]

XVI-3

M

10 d

Severe bone deformities, blue sclerae, normal cognition

c.893 T > G (p.Phe298Cys)

[3]

XVII

M

birth

Severe bone deformities, dilated ventricles with cerebral atrophic changes, severe DD

c.990C > A (p.Cys330*)

[7]