Skeletal Dysplasia_Fetal

Gene: TRIP11

Green List (high evidence)

Achondrogenesis type I is a severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. Well established gene-disease association with over 10 families reported.

Created: 1 Sep 2020, 4:59 a.m. | Last Modified: 1 Sep 2020, 4:59 a.m.

Panel Version: 0.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achondrogenesis, type IA, MIM# 200600

Publications

• 20089971

I don't know

Association with Achondrogenesis type 1 is well-established (>10 families) (PMID: 29872333, 20089971).

7 families were discribed with odontochondrodysplasia, a non-lethal form of achrondrogeneisis type 1 (PMID: 30728324).

No patients have biochemical evidence of a CDG that I could find (e.g. transferrins). Functional studies indicate abnormal Golgi-mediated glycosylation events in cells from mutant mice (PMID: 20089971). Glycosylation defects were also observed in patient fibroblasts (PMID: 30728324, 30518689).

This gene is on the Invitae CDG panel.

Created: 15 Jul 2020, 3:19 a.m. | Last Modified: 15 Jul 2020, 3:19 a.m.

Panel Version: 0.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Achondrogenesis, type IA MIM# 200600; Osteochondrodysplasia MIM# 184260

Publications

• 29872333
• 20089971
• 30728324
• 30518689

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