Structural eye disease
Gene: PDGFRA
PMID: 35034853 identified a monoallelic PDGFRA variant in a case with Bilateral chorioretinal coloboma and microphthalmia, together with global developmental delay, autistic behaviour and delayed gross motor development. In situ hybridization showed that pdgfaa was expressed in the periocular mesenchyme cells in zebrafish embryos at 32 hpf (PMID: 35034853, Fig S1), furthermore, knockdown of pdgfa morphants resulted in coloboma phenotype (Fig 2), together with microphthalmia.Created: 19 Oct 2023, 12:08 p.m. | Last Modified: 19 Oct 2023, 12:08 p.m.
Panel Version: 3.31
PMID: 35034853 - patient with bilateral chorioretinal coloboma and microphthalmia as well as global developmental delay with autistic behavior. Heterozygous variant in PDGFRA found - NM_006206.6:c.1295C>T, p.(Thr432Met). Not found in unaffected mother
Knockdown of pdgfaa and pdgfab in zebrafish caused a severe coloboma phenotype
Sources: LiteratureCreated: 12 Sep 2023, 12:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Bilateral chorioretinal coloboma, microphthalmia and global developmental delay
Publications
Gene: pdgfra has been classified as Amber List (Moderate Evidence).
gene: PDGFRA was added gene: PDGFRA was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFRA were set to 35034853 Phenotypes for gene: PDGFRA were set to Bilateral chorioretinal coloboma, microphthalmia and global developmental delay Review for gene: PDGFRA was set to AMBER