Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.

• Tác giả: Seyedeh Ala Mokhtabad Amrei, Paul Hagerman, Randi J Hagerman, Hasan Hasan, Jamie Leah Randol, Ellery R Santos, Flora Tassone
• Ngôn ngữ: eng
• Ký hiệu phân loại: 623.853 Temperature controls and air conditioning
• Thông tin xuất bản: United States : Case reports in genetics , 2025
• Bộ sưu tập: NCBI
• ID: 678795

Tóm tắt

Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5'UTR (untranslated region) of