Skeletal dysplasia

Gene: UFSP2

Green List (high evidence)

PMID: 37214758:

Additional patient with spondyloepimetaphyseal dysplasia type Di Rocco:
- het missense Cys302Ser
- confirmed de novo in segregation analyses
- absent in gnomAD
- no functional studies on the missense.

Four AD missense reported in the literature so far are located in the C-term catalytic domain - 1x hip dysplasia, Beukes type and 3x spondyloepimetaphyseal dysplasia type Di Rocco.

The well reported AR missense (associated with neurodevelopmental anomalies and epilepsy) is located in the N-terminal domain possibly involved in substrate binding.

Created: 13 May 2024, 3:54 a.m. | Last Modified: 13 May 2024, 3:54 a.m.

Panel Version: 0.272

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974

Publications

• 37214758

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Hip dysplasia: single 8 generation family reported.

Spondyloepimetaphyseal dysplasia, Di Rocco type: two families reported.

Created: 25 May 2021, 9:51 a.m. | Last Modified: 25 May 2021, 9:51 a.m.

Panel Version: 0.98

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974

Publications

• 26428751
• 28892125
• 32755715