Osteogenesis imperfecta

Gene: SUCO

I don't know

Comment on list classification: Promoting from grey to amber. 1 case plus supportive mouse model.

Created: 16 Sep 2021, 10:41 a.m. | Last Modified: 16 Sep 2021, 10:41 a.m.

Panel Version: 2.30

Not associated with any phenotype in OMIM https://omim.org/entry/619434

PMID: 29620724 - Maddirevula et al 2018 - performed detailed phenotyping and next-generation sequencing of individuals from 288 families with various forms of skeletal dysplasia. Report a male patient with nonconsanguineous parents with compound het variants in SUCO showing diffuse osteopenia, multiple fractures with limb deformities, and short long bones

PMID: 20440000 - Sohaskey et al 2010 - mouse model of Opt -/- mice (Opt is now renamed Suco and is 1:1 ortholog with human SUCO). Beginning at ∼P5, Opt−/− mice exhibited striking skeletal deformities that included misshapen long bones, internal hemorrhaging around forelimbs and cervical vertebrae, inflexible joints, and spontaneous fractures.

Created: 16 Sep 2021, 10:40 a.m. | Last Modified: 16 Sep 2021, 10:40 a.m.

Panel Version: 2.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
skeletal dysplasia; osteopenia

Publications

• 29620724
• 20440000

I don't know

A single case with diffuse osteopenia, multiple fractures with limb deformities, and short long bones, with biallelic variants (a missense and a splice site variant). Also, a null mouse model with acute onset skeletal defects that include impaired bone formation and spontaneous fractures.
Sources: Literature

Created: 12 Sep 2021, 5:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta

Publications

• 29620724
• 20440000