we report the clinical findings in three brothers of a consanguineous Moroccan family aged 24 17 and 7 yr old with spastic paraplegia short stature motor and cognitive delay and severe intellectual disability. Targeted exon capture and sequencing showed a homozygous nonsense mutation in the SPG20 gene c.1369C>T (p.Arg457*) in the three affected boys.
The study reveals that hypermethylation in Spastic paraplegia-20 promoter is a highly specific and sensitive biomarker for screening colorectal cancer in stool samples as a noninvasive method.
SPG20 is mutated in Troyer syndrome an hereditary spastic paraplegia.We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20 encoding spartin
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