Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.

This report described a 14-year-old female with a complex medical history linked to pathogenic variants in the MBTPS1 gene, which encodes Site-1 protease. The patient exhibited symptoms such as early-onset cataracts, joint hypermobility, and abnormal hair growth, among others. Exome sequencing revealed compound heterozygous variants in MBTPS1, with one variant affecting protein function and another causing exon skipping, leading to non-sense mediated decay. The study expanded the known phenotypic spectrum of MBTPS1-related disorders by highlighting features of ectodermal dysplasia, including decreased sweating and dysplastic nails. Only eight studies had previously described MBTPS1-related disorders, making this report a significant contribution to understanding these conditions.