Skeletal dysplasia

Gene: PRKG2

Green List (high evidence)

PMID 34782440: 4 further families reported.

Created: 16 Nov 2021, 11:20 p.m. | Last Modified: 16 Nov 2021, 11:20 p.m.

Panel Version: 0.138

- PMID: 33106379 (2020) - Distinct homozygous variants in PRKG2 identified in two unrelated individuals, both with a skeletal dysplasia associated with severe short stature due to acromesomelic limb shortening, brachydactyly, mild to moderate platyspondyly and progressively increasing metaphyseal alterations of the long bones. Functional studies showed both variants result in NMD and disrupt the downstream MAPK signalling pathway in response to FGF2. The role of cGKII, encoded by PRKG2, in skeletal growth has been established in several animal models (references provided in paper).
Sources: Literature

Created: 2 Nov 2020, 8:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acromesomelic dysplasia 4, MIM# 619636; Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638

Publications

• 33106379
• 34782440

Green List (high evidence)

- PMID: 33106379 (2020) - Distinct homozygous variants in PRKG2 identified in two unrelated individuals, both with a skeletal dysplasia associated with severe short stature due to acromesomelic limb shortening, brachydactyly, mild to moderate platyspondyly and progressively increasing metaphyseal alterations of the long bones.

Functional studies showed both variants result in NMD and disrupt the downstream MAPK signalling pathway in response to FGF2. The role of cGKII, encoded by PRKG2, in skeletal growth has been established in several animal models (references provided in paper).
Sources: Literature

Created: 2 Nov 2020, 1:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acromesomelic dysplasia

Publications

• 33106379