From the Research
The most recent and highest quality study identified a novel missense mutation in the OSMR gene, specifically the L613S mutation, which is associated with Primary Localized Cutaneous Amyloidosis (PLCA) 1. This mutation results in an amino acid change in the oncostatin M receptor beta subunit, leading to impaired receptor signaling and subsequent amyloid deposition in the skin. The OSMR gene encodes a component of the interleukin-31 receptor complex, which plays a crucial role in skin homeostasis and pruritus signaling. When OSMR is mutated, it leads to increased scratching behavior due to intense pruritus, and subsequent amyloid deposition in the skin. Other studies have also identified additional OSMR variants associated with PLCA, including p.D647V, p.P694L, and p.K697T 2, as well as p.G618A, p.I691T, and p.K615N, which affect the fibronectin type III domain of the Oncostatin M Receptor 3. However, the L613S mutation is the most recently identified and is specifically associated with PLCA in a Kurdish family 1. Key points to consider include:
- The L613S mutation is a novel missense mutation in the OSMR gene associated with PLCA
- The mutation leads to impaired receptor signaling and subsequent amyloid deposition in the skin
- OSMR is a component of the interleukin-31 receptor complex involved in skin homeostasis and pruritus signaling
- The mutation appears to have an autosomal dominant inheritance pattern with variable penetrance
- Additional OSMR variants have been identified in different families with PLCA, particularly in Asian populations where the condition is more prevalent.