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Fig.3 | BMC Neurology

Fig.3

From: Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family

Fig.3

Family diagram and the Sanger sequencing map. (a) Pedigree illustrating autosomal recessive inheritance of spastic paraplegia type 56 (SPG56) due to a homozygous mutation in CYP2U1 (c.913 C > T, p.His305Tyr) within a consanguineous family. Half-shaded symbols indicate carriers of the heterozygous CYP2U1 variant (c.913 C > T, p.His305Tyr), and the fully shaded symbol denotes the proband (V8), who exhibits HSP with the homozygous variant (c.913T, p.305Tyr). (b) Sanger sequencing map of the homozygous variation of c.913T (p.305Tyr) in exon 2 of CYP2U1 (NM_183075). (c) Sanger sequence diagram of the carrier of the heterozygote c.913 C > T (p.His305Tyr). (d) Wild-type sequencing map of c.913C (p.His305)

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BMC Neurology

ISSN: 1471-2377

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