Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

• DOI: 10.1186/s12881-020-01095-x
• Publication Date: 2020-08-24T14:03:06Z
• Authors: Talal J. Qazi; Qiao Wu; Ailikemu Aierken; Daru Lu; Ihtisham Bukhari; Hafiz M. J. Hussain; Jingmin Yang; Asif Mir; Hong Qing
• Keywords: Sanger sequencing; Exome; Human genetics

Abstract Background Loss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides disability, SRS is also characterized by reduced bone density, osteoporosis and facial dysmorphism. phenotypes evolve with age from childhood adulthood. Methods Whole exome sequencing was performed know causative gene/pathogenic variant. Later we confirmed pathogenic variant through Sanger sequencing. Furthermore, mutational analysis HOPE SERVER SWISS-MODEL. Also, radiographs were obtained for affected individual confirm disease features. Results In this article, report first Pakistani family consisting three patients novel missense SMS (c.905 C > T p.(Ser302Leu)). addition typical phenotypes, one patient presented early-onset seizures. Clinical features, genetic in-silico linked suggest that mutation affects activity. Conclusion A SMS, c.905C p. (Ser302Leu), causing Snyder- Robinson (SRS) members Family.