Stroke
Gene: PDGFRB
PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).
PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm.
Sources: LiteratureCreated: 22 Jun 2021, 12:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Single family reported with OPDKD phenotype characterised by aggressive circumferential ingrowth of conjunctiva beginning in early childhood that is resistant to treatment, ultimately covering the cornea and resulting in loss of vision. Digital keloid formation after minor trauma, which can become extensive and cause flexion contractures; hardened auricles. RED for this association.Created: 5 Feb 2025, 4:44 a.m. | Last Modified: 5 Feb 2025, 4:44 a.m.
Panel Version: 1.2291
Multiple phenotypes associated with variants in this gene.Created: 5 May 2021, 10:16 a.m. | Last Modified: 5 May 2021, 10:16 a.m.
Panel Version: 0.7491
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ocular pterygium-digital keloid dysplasia syndrome, MIM# 621091; Basal ganglia calcification, idiopathic, 4, MIM# 615007; Kosaki overgrowth syndrome, MIM# 616592; Myeloproliferative disorder with eosinophilia, MIM# 131440; Myofibromatosis, infantile, 1, MIM# 228550; Premature ageing syndrome, Penttinen type, MIM# 601812
Publications
PMID: 33450762 - Bredrup et al 2001 - report a family with a missense variant PDGFRB (p.Asn66Tyr) and Ocular pterygium-digital keloid dysplasia with the main phenotypes being vascularization of the cornea and progressive keloids on the fingers and later toes. This activating variant is temperature sensitive with higher levels of phosphorylation at 32 degrees compared to 37 degrees. A different substitution in the same codon, p.Asn666Ser, is associated with Penttinen type of premature aging syndrome but its level of activation is not affected by temperature.Created: 4 May 2021, 1:16 p.m. | Last Modified: 4 May 2021, 1:16 p.m.
Panel Version: 0.7488
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ocular pterygium-digital keloid dysplasia
Publications
- > 3 unrelated individuals diagnosed with Penttinen syndrome
- Functional studies on patient fibroblasts, HeLa and HEK293 cells harbouring mutant constructs demonstrate constitutive tyrosine kinase activation (gain of function) compared with WT constructsCreated: 24 Apr 2020, 5:40 a.m. | Last Modified: 24 Apr 2020, 5:41 a.m.
Panel Version: 0.2611
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Premature aging syndrome, Penttinen type, 601812
Publications
Mode of pathogenicity
Other
Gene: pdgfrb has been classified as Green List (High Evidence).
Gene: pdgfrb has been classified as Green List (High Evidence).
Tag somatic tag was added to gene: PDGFRB.
gene: PDGFRB was added gene: PDGFRB was added to Stroke. Sources: Literature Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFRB were set to PMID: 33683022; 32291752 Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis Mode of pathogenicity for gene: PDGFRB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PDGFRB was set to GREEN