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

The study examined four families with hypotrichosis linked to mutations in the LSS gene, which encodes lanosterol synthase, and found that these mutations could result in alopecia with or without neurodevelopmental symptoms. Researchers identified four novel mutations and one known mutation, noting that one novel mutation affected splicing. The study underscored the phenotypic variability of LSS mutations, which could include intellectual disability and other neurodevelopmental and dermatological features. Although the genotype-phenotype correlations were unclear, the research suggested that the extent of clinical features might be related to the degree of normal protein function. The study called for further research to understand the mechanisms of this variability and recommended considering prenatal diagnostics for families with known LSS mutations.