Skip to main content
Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia

Fig. 1

Pedigree of the investigated HSP family harbouring a novel SPAST gene mutation. a: The black arrow indicates the proband II:6. Squares indicate male, circles indicate females. Individuals affected with HSP are represented by black filled, while Healthy members are indicated by empty symbols. Slashes indicate already dead. b: Detection of the mutation of SPAST gene in a Chinese family. Sequence analysis revealed a newly identified in-frame deletion mutation in a heterozygous form in four affected individuals (II:2,III:1,III:9 and IV:9) within the family. The exon16 consists three nucleotides deletion(c.1710_1712delGAA). III:5 is the representative wild type sequences of the investigated healthy family members

Back to article page