Mutations in which gene are associated with ichthyosis vulgaris?

Ichthyosis vulgaris is primarily associated with mutations in the filaggrin gene (FLG). Filaggrin is an important protein in the skin that plays a crucial role in the formation of the skin barrier. Mutations in this gene lead to a deficiency or dysfunction of filaggrin, which impairs the skin's ability to retain moisture and maintain its barrier function. Consequently, this results in the characteristic dry, scaly skin seen in ichthyosis vulgaris.

In particular, filaggrin contributes to the process of keratinization in the epidermis, which is essential for preventing water loss and protecting against environmental insults. When filaggrin production is disrupted due to genetic mutations, individuals are more susceptible to dry skin conditions, resulting in symptoms consistent with ichthyosis vulgaris.

Other options mentioned are associated with different skin conditions. For example, keratin 14 mutations are linked to conditions affecting the stability of the epidermal layers, collagen type VII is associated with dystrophic epidermolysis bullosa, and desmoglein 1 mutations are linked to pemphigus foliaceus, a blistering skin disease. Each gene plays a specific role in skin integrity and health, but filaggrin