Neurofibromatosis type 1-associated tumours ... - Human Genomics
Neurofibromatosis type 1-associated tumours ... - Human Genomics
Neurofibromatosis type 1-associated tumours ... - Human Genomics
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636 # HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 5. NO 6. 623–690 OCTOBER 2011<br />
Table S1. Summary of germline mutations and loss of heterozygosity (LOH) in NF1-<strong>associated</strong> <strong>tumours</strong><br />
Patient<br />
ID<br />
Germline mutation<br />
Dermal neurofibromas<br />
Type of<br />
germline<br />
mutation<br />
T190.2 Exon 2 and 3 deletion Two exon<br />
deletion<br />
LOH LOH markers Predicted<br />
extent of<br />
LOH<br />
Yes<br />
E5 RFLP, I12b,<br />
IVS27A28.4, J1/J2,<br />
EVI20, IVS38GT53.0,<br />
3 0 NF1, C7CT1/2<br />
(3 0 UTR), EW206,<br />
EW207, D17S798,<br />
D17S1868<br />
T190.6 Yes E5 RFLP, I12b,<br />
IVS27A28.4, J1/J2,<br />
EVI20, IVS38GT53.0,<br />
3 0 NF1, C7CT1/2<br />
(3 0 UTR), EW206<br />
T190.11 Yes E5 RFLP, I12b,<br />
IVS27A28.4, J1/J2,<br />
EVI20, IVS38GT53.0,<br />
3 0 NF1, C7CT1/2<br />
(3 0 UTR)<br />
T190.17 Yes E5 RFLP, I12b,<br />
IVS27A28.4, J1/J2<br />
NF1 and 3 0<br />
flanking<br />
region<br />
NF1 and 3 0<br />
flanking<br />
region<br />
NF1 and 3 0<br />
flanking<br />
region<br />
Intragenic<br />
NF1<br />
T190.18ii Yes E5 RFLP Intragenic<br />
NF1<br />
T206.1 Ex4b:<br />
c.499_502delTGTT;<br />
p.C167GnfsX9<br />
4bp<br />
deletion<br />
(FS)<br />
T206.2 LOH<br />
T206.3 LOH<br />
Evidence<br />
for genomic<br />
deletion?<br />
MLPA/CGH<br />
arrayCGH/<br />
FISH<br />
Probable<br />
mechanism<br />
No.<br />
samples<br />
with<br />
LOH<br />
MLPA Deletion 5/23 1<br />
MLPA<br />
MLPA<br />
MLPA<br />
MLPA<br />
Deletion<br />
Deletion<br />
Deletion<br />
Deletion<br />
Reference<br />
LOH NIA Unpublished<br />
data, Cardiff<br />
Continued<br />
REVIEW Laycock-van Spyk et al.
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