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. Author manuscript; available in PMC: 2012 Jul 28.
Published in final edited form as: Genet Med. 2011 Jun;13(6):582–592. doi: 10.1097/GIM.0b013e3182106775

Table 1.

Published intragenic CNVs in SPAST of size >30 bp.

No. Exon(s)
Involved		 Clinical Diagnosis
(No. different
families if >1)		 Method of
Detection		 Coordinatesa Reference
Deletions
1 1 AD-HSP MLPA - 15
2 1 AD-HSPb
(3 families)		 MLPA - 12
3 1 HSP MLPA - 14
4 1 AD-HSP
(1 or 2 families)		 MLPA - 17
5 1
(partial)		 AD-HSP Southern blot,
seq		 Chr2:32,142,293
−32,144,598		 31
6 1–3 AD-HSP MLPA - 15
7 1–3 HSP MLPA - 16
8 1–4 AD-HSPb MLPA - 12
9 1–7 AD-HSP MLPA - 15
10 1–17 AD-HSPb
(4 families)		 MLPA - 12
11 2–5 AD-HSP MLPA - 15
12 2–9 Familial HSP MLPA - 16
13 2–16 AD-HSP MLPA - 49
14 2–16 Familial HSP MLPA - 16
15 2–17 HSP MLPA - 14
16 3–17 Spastic paraplegia MLPA - 50
17 4 HSP MLPA - 50
18 4–17 AD-HSP MLPA - 49
19 4–17 AD-HSPb MLPA - 12
20 5 HSP MLPA - 14
21 5–6 AD-HSPb MLPA - 12
22 5–7 AD-HSP MLPA - 15
23 5–7 AD-HSPb MLPA - 12
24 5–15 AD-HSP
(2 families)		 MLPA - 15
25 6 AD-HSPb MLPA - 12
26 6–17 AD-HSP MLPA - 15
27 8 Familial HSP MLPA - 16
28 8–9 AD-HSP MLPA - 17
29 8–12 AD-HSPb MLPA - 12
30 8–17 AD-HSP MLPA - 49
31 8–17 AD-HSPb
(2 families)		 MLPA - 12
32 9 AD-HSPb MLPA - 12
33 9–12 AD-HSPb MLPA - 12
34 9–17 Familial HSP MLPA - 16
35 10 AD-HSP MLPA - 15
36 10–12 AD-HSP MLPA - 15
37 10–12 AD-HSP MLPA - 49
38 10–12 HSP MLPA - 14
39 10–12 AD-HSP MLPA - 51
40 10–16 AD-HSPb MLPA - 12
41 10–16 Familial HSP MLPA - 52
42 13 AD-HSPb
(2 families)		 MLPA - 12
43 13–16 HSP PCR and
electrophoresis
of cDNA		 - 5
44 14–17 Spastic paraplegia MLPA - 50
45 16 AD-HSP MLPA - 49
46 16 AD-HSPb
(2 families)		 MLPA - 12
47 16–17 AD-HSP MLPA - 15
48 16–17 AD-HSPb MLPA - 12
49 17 AD-HSP MLPA - 15
50 17 AD-HSP
(2 families)		 MLPA - 49
51 17 AD-HSPb MLPA - 12
52 17 HSP MLPA - 16
53 17 Sporadic spastic
paraplegia		 MLPA - 51
54 17 HSPc MLPA, LS-
aCGH, seq 		See text and
figures 		Present Investigation
(Patient A37)
55 17 HSPc MLPA, LS-
aCGH, seq 		See text and
figures 		Present Investigation
(Patient A39)
Duplication
56 10–12 AD-HSP MLPA, seq Chr2:32,212,239
−32,216,284		 6
Complex
57 17 HSPc MLPA, LS-
aCGH, seq 		See text and
figures 		Present Investigation
(Patient A38)
a

March 2006 assembly of the reference genome (NCBI36/hg18).

b

One of 121 families studied by Depienne et al.12 displayed disease in two siblings, rather than strict AD inheritance. It is unclear whether this family is represented by any exonic CNV reported in the table.

c

Inheritance is not known for these anonymized samples.

AD, autosomal dominant; HSP, hereditary spastic paraplegia; MLPA, multiplex ligation-dependent probe amplification; LS-aCGH, locus-specific aCGH; seq, DNA sequencing.