A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.

Asodu Sandeep Sarma,Bathula Siddardha, Pragna Lakshmi T,Prajnya Ranganath,Ashwin Dalal

The journal of gene medicine（2023）

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摘要

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.

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关键词

SELENOI,exome sequencing,hereditary spastic paraplegia 81,homozygous,splicing,synonymous

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