Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant

作者：Megumi Leung, Meredith Sanchez‐Castillo, Newell Belnap, Marcus Naymik, Anna Bonfitto, Jennifer L. Sloan, Katie Hassett, Wayne M. Jepsen, Sankaramoorthy Aravind, Tracy Murray Stewart, Jackson R. Foley, Sampathkumar Rangasamy, Matthew J. Huentelman, Vinodh Narayanan, Keri Ramsey · 发表于：Rare · 年份：2023 · DOI：10.1016/j.rare.2023.100017 · 被引用次数：8 · 研究领域：Polyamine Metabolism and Applications、Biochemical and Molecular Research、Epigenetics and DNA Methylation

Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay and seizures. Whole genome sequencing (WGS) identified a mutation in the spermine synthase (SMS) gene (c.746 A>G, p.Tyr249Cys) in a male with kyphosis, seizures, and osteoporosis. His phenotype is unique in that he does not have intellectual disability (ID) but does have a mild learning disability. This case demonstrates a milder presentation of SRS and expands the phenotype beyond the reported literature.