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Fig. 1 | BMC Medical Genomics

Fig. 1

From: A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics

Fig. 1

Pedigrees of the hereditary spastic paraparesis (HSP)-affected family. (A) the pedigree. (B) Sanger sequencing confirms the presence of NM_014946.4:c.483_484delinsC variant in spastin cDNAs in II-2, II-6, II-8, III-7, III-13, III-15, III-19. A normal genotype was confirmed in II-4, II-9, III-17, III-21, IV-5, IV-7. The pedigree suggests an autosomal dominant inheritance. HSP-affected individuals are marked by filled black symbols; individuals with unclear disease status are marked by filled gray symbols; the proband is marked with an arrow

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BMC Medical Genomics

ISSN: 1755-8794

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