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

From: The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report

Family-Case Sex Onset Significant reported clinical features Mutation Ref.
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]
  1. d days, DD delayed development, f family, F female, M male, mo months, n/a not available, NL normal, unilat unilateral, wk. weeks, y years