BMC Neurology

Table 5 Segregation analysis of four candidate variants in the Siberian HSP family

From: Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

ID (Fig. 2)	Phenotype	Gene symbol/Variant
ID (Fig. 2)	Phenotype	DLGAP2/p.D758N	DSCAML1/p.I1742N	DNAH10/p.V3539M	DNM2/p.R719W
II:6	Affected	mut	mut	mut	mut
III:2	Affected	mut	ref	ref	mut
III:3	Affected	mut	mut	mut	mut
III:7	Affected	mut	mut	mut	mut
IV:1	Affected	nd	nd	nd	mut
III:1	Unaffected	mut	ref	ref	ref
IV:2	Unaffected	mut	ref	ref	ref
IV:3	Unaffected	ref	nd	ref	ref
IV:4	Unaffected	ref	nd	ref	ref

mut mutated allele, ref reference allele, nd not done. The current age of the unaffected family members (years): III:1 – 57; IV:2 – 39; IV:3 – 27; IV:4 – 30

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ISSN: 1471-2377

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