Corneal dystrophy

Gene: PDGFRB

Red List (low evidence)

PMID: 33450762 - Bedrup et al 2021 - report a case of a dominant activating substitution in PDGFRB, NM_002609.3(PDGFRB):c.1996A > T, p.(Asn666Tyr), in a family with Ocular pterygium-digital keloid dysplasia (OPDKD) in which ingrowth of vascularized connective tissue on the cornea leads to severely reduced vision. The variant is affecting the same codon as reported for Penttinen syndrome (which causes widespread destruction of connective tissue causing severe disfigurement). However, unlike the Penttinen syndrome substitution, it was found that the OPDKD substitution is highly activated only at 32°C which is in cocordance with the fact that OPDKD are restricted to body parts (cornea and digits) with lower and more variable temperature than the core temperature.
Sources: Literature

Created: 7 Jan 2024, 8:09 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• 33450762