Skeletal Dysplasia_Fetal

Gene: WNT1

I don't know

WNT1 causes AR OI, brain (cerebellar) malformations not a consistent feature.

PMID: 26671912; Reviewed clinical and brain imaging of 6 patients from 4 families (2 unrelated Hmong fams with same variant, likely founder). Cerebellar hypoplasia in 5 of 6 patients with varied severity. Cerebellar abnormalities inconsistent between the 3 Hmong patients with same variant.

PMID: 23499309; Reported hom variants in 5 consang fams with autosomal-recessive OI. Ataxia, other signs of
cerebellar dysfunction not a key feature, only one patient showed brain malformations.

PMID: 23434763; Reported 3 families with OI, no brain malformations described.

Created: 4 May 2020, 1:06 a.m. | Last Modified: 4 May 2020, 1:06 a.m.

Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XV (MIM#615220)

Publications

• 26671912
• 23499309
• 23434763

Green List (high evidence)

ID reported in this type of OI.

Aldinger et al. (2016) reviewed the developmental outcomes and brain imaging studies of 6 patients with genetically confirmed OI15. Five of 6 individuals had cerebellar hypoplasia. Five of 6 patients had severe intellectual disability, and the sixth patient, with the Chiari malformation, had mild autism. Suspected relationship between severity of the intellectual disability and brainstem-cerebellar hypoplasia, but there were no apparent genotype/phenotype correlations.

Created: 4 Dec 2019, 10:13 p.m. | Last Modified: 4 Dec 2019, 10:13 p.m.

Panel Version: 0.348

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XV; OMIM# 615220

Publications

• PubMed: 26671912