J Clin Neurol.  2019 Jan;15(1):120-121. 10.3988/jcn.2019.15.1.120.

Novel Pathogenic Variant of SPAST (c.1413+4A>G) in a Patient with Hereditary Spastic Paraplegia

• Yang J
• Seo JY
• Lee KW
• Park HM

• KMID: 2451156
• DOI: http://doi.org/10.3988/jcn.2019.15.1.120

Abstract

No abstract available.

MeSH Terms

Humans
Spastic Paraplegia, Hereditary*

Figure

• 

  Fig. 1 Findings of RNA investigations in our patient. A: A RT-PCR showed an aberrant splicing product smaller than the control (~259 vs. 351 bp), suggesting the skipping of exon 11 (92 bp). B: Direct sequencing of the RT-PCR product confirmed that the patient had a mutant transcript without exon 11 (exon-11 skipping; bottom) along with the wild-type sequence (top). C: Schematic diagram of the structure of spastin. The horizontal black line indicates the AAA domain-encoding region of the gene, and the arrow indicates the position of the current mutation. The exon that is skipped as a result of splice-site mutations is shaded. AAA: ATPase associated with various cellular activities, bp: base pair, C: control, M: marker, P: patient, RT-PCR: reverse-transcription polymerase chain reaction, UTR: untranslated region.

Reference

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