WES analysis reveals a novel hemizygous variant in Paganini-Miozzo syndrome-related gene HS6ST2

This study presents the first case of MRXSPM in China. Whole exome sequencing (WES) revealed a novel variant. The patient's brain MRI showed mild lateral ventricular enlargement, and electroencephalogram showed diffuse spikes and waves. Biochemical tests indicated significantly elevated transaminases, blood lactate values, and lactate/pyruvate values. Bioinformatics predictions suggest that this mutation may affect the thermal stability of the HS6ST2 protein.In vitro cell experiments 2 demonstrated that this mutant can impact the expression of HS6ST2 protein at post-transcriptional level. Comparison with previously reported cases revealed that different mutations might lead to different alternations in the function of HS6ST2 protein, resulting in distinct clinical phenotypes.