Ultrastructural Skin Changes in Egyptian Mandibuloacral Dysplasia Patients with p.Arg527Leu LMNA Mutation and in Their Asymptomatic Heterozygotic Mothers

The study investigated ultrastructural skin changes in Egyptian patients with mandibuloacral dysplasia (MAD) carrying the p.Arg527Leu mutation in the LMNA gene, as well as in their asymptomatic heterozygotic mothers. The LMNA gene is crucial for nuclear envelope stability and chromatin organization. Mutations in this gene, such as those causing Hutchinson–Gilford progeria syndrome, lead to severe phenotypes including skin atrophy and alopecia. The research highlighted the impact of the p.Arg527Leu mutation on skin structure, contributing to the understanding of MAD and related laminopathies. The study provided insights into the genetic and molecular basis of these conditions, although specific details on the number of participants were not provided.