A novel homozygous synonymous splicing variant in SELENOI gene causes Spastic Paraplegia 81.
Asodu Sandeep SarmaBathula SiddardhaT Pragna LakshmiPrajnya RanganathAshwin B DalalPublished in: The journal of gene medicine (2023)
We report a novel homozygous synonymous variant in the SELENOI gene causing abnormal splicing in two patients affected with Hereditary spastic paraplegia-81. This report further expands the phenotypic and genotypic spectrum of Hereditary spastic paraplegia-81.