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. Author manuscript; available in PMC: 2013 Apr 1.
Published in final edited form as: Ann Neurol. 2012 Mar 23;71(4):458–469. doi: 10.1002/ana.23547

TABLE 3.

CIZ1 Mutation Screening

Exon Cervical Dystoniab Controlsd
HRM Sangerc Total Subjects HRM Sanger Total Subjects
1 0 140 140 0 100 100
2a 308 236 308 724 300 724
3 308 140 308 724 100 724
4 308 140 308 724 100 724
5 308 140 308 0 100 100
6 308 140 308 0 100 100
7a 308 236 308 724 300 724
8a 308 236 308 724 300 724
9 308 140 308 724 100 724
10a 0 236 236 0 300 300
11 308 140 308 0 100 100
12a 308 236 308 724 300 724
13 308 140 308 724 100 724
14 0 140 140 0 100 100
15 308 140 308 724 100 724
16 308 140 308 724 100 724
17 0 140 140 0 100 100
a

Exons harboring novel variants.

b

M:F = 71:237; age: mean = 59.8 yrs, range = 21–92 yrs, SEM = 12.3 yrs. Subjects with CD were divided into two groups for analysis. Group A included 44 probands with a positive family history of dystonia (M:F = 12:32; age: mean = 59.0 yrs, range = 29–85 yrs, SEM = 12.7 yrs; age of onset: mean = 41.1 yrs, range = 7–65 yrs, SEM = 14.6 yrs). Group B included 264 sporadic cases of CD (M:F = 59:205, age: mean = 60.1 yrs, range = 21–92 yrs, SEM = 12.1 yrs; age of onset: mean = 47.6 yrs, range = 14–85 yrs, SEM = 13.7 yrs).

c

Sanger sequencing included all samples from group A with the remainder derived from group B. These numbers do not include samples with shifted melting curves, which were subjected to Sanger sequencing after HRM.

d

M:F = 297:427; age: mean = 58.8 yrs, range, 21–95 yrs, SEM = 14.6 yrs.