Four Hypotrichosis Families With Mutations in the Gene LSS Presenting With and Without Neurodevelopmental Phenotypes

This study investigated four families with mutations in the LSS gene, which encodes lanosterol synthase, leading to hypotrichosis simplex (HS) with or without neurodevelopmental phenotypes. The research identified four novel mutations and one known mutation, with one novel mutation being a synonymous variant causing altered splicing. The study highlighted the phenotypic variability among affected individuals, including differences in intellectual disability and other clinical features. The findings suggested that the presence and severity of additional clinical features might relate to the degree of normal protein function. The study emphasized the need for further research to understand the mechanisms behind the phenotypic variability and proposed careful investigation of synonymous LSS mutations for pathogenicity. The authors also discussed the implications for prenatal diagnostics in families with known LSS mutations.