Note: The original file submitted is modified to provide links to the results.
TABLE 1. LIS1 Mutations Found in Patients With Isolated Lissencephaly Sequence
Lissencephaly
Exon/ Predicted severity Mutation
Patient Sex intro Nucleotide change protein grade origin Reference
Missense
mutations
LP 97-077 F 3 92T>C F31S 4 De novo Cardoso et al. [2000]
LP 93-012 M 6 446A>G H149R 3 De novo Lo Nigro et al. [1997]
LP 99-127 M 6 484G>A G162S 4 De novo Cardoso et al. [2000]
LP 94-051 M 6 499T>C S169P 6 De novo Pilz et al. [1999]
LP 98-063 M 9 949G>C D317H 4 De novo Cardoso et al. [2000]
Nonsense
mutations
LP 99-058 M 5 265C>T R89X 3 De novo Cardoso et al. [2000]
ILS-I12 M 6 430C>T R144X 2 De novo Fogli et al. [1999]
LP 97-078 M 6 430C>T R144X 3 De novo Pilz et al. [1998a]
LP 89-005 M 8 817C>T R273X 3 De novo Lo Nigro et al. [1997]
DP-0201 M 8 817C>T R273X 4 De novo Cardoso et al. [2000]
LP 97-086 F 8 866C>G S289X 3 De novo Cardoso et al. [2000]
Small deletions
or insertions
ILS-E03 M 4 154-155insA Frameshift 2 De novo Fogli et al. [1999]
LP 97-068 F 4 162-163insA Frameshift 2 De novo Pilz et al. [1998a]
Case 4 — 4 162delA Frameshift – De novo Sakamoto et al. [1998]
LP 99-053 M 4 166delA Frameshift 4 De novo Cardoso et al. [2000]
ILS-I02 F 6 0-529 del 10bp+ins A Frameshift 2 De novo Fogli et al. [1999]
ILS-I05 M 6 0-529 del 10bp+ins A Frameshift 2 De novo Fogli et al. [1999]
ILS-S03 M 6 558-559 ins 46bp Frameshift 2 De novo Fogli et al. [1999]
LP 97-071 F 8 703-704delGA Frameshift 3 De novo Pilz et al. [1998a]
LR 01-130 M 8 771-772delTG Frameshift 3 De novo This report
LP 91-019 F 8 805delA Frameshift 3 De novo Pilz et al. [1998a]
LP 99-039 M 8 881-882delCT Frameshift 3 De novo Cardoso et al. [2000]
LP 97-021 M 9 903-904insT Frameshift 3 De novo Pilz et al. [1998a]
LP 90-014 M 10 1018-1019insT Frameshift 4 De novo Pilz et al. [1998a]
LP 01-097 M 10 1024-1031del8 bp Frameshift — De novo This report
LP 98-100 M 10 1050-1051insG Frameshift 3 De novo Cardoso et al. [2000]
LR 00-159 F 10 1050-1051insG Frameshift 3 De novo This report
Splice site
mutations
ILS-I07 F Intron 3 c.118-11del5 bp Acceptor splice site 3 De novo Fogli et al. [1999]
LP 99-014 M Intron 6 c.569-10T>C Acceptor splice site 3 De novo Cardoso et al. [2000]
LP 99-088 F Intron 6 c.569-10T>C Acceptor splice site 3 De novo Cardoso et al. [2000]
LR 00-083 M Intron 8 c.900+1G>A Donor splice site 3 De novo This report
LP 93-005 M Intron 9 c.988del22 bp Missing exon 9 4 De novo Lo Nigro et al. [1997]
LP 91-012 M Intron 9 c.1002+1G>A Donor splice site 3 De novo Cardoso et al. [2000]
LP 97-069c F Intron 9 c.1002+5G>A Donor splice site 3 De novo Pilz et al. [1998]
LP 90-020 M Intron 10 c.1159+3insCA Donor splice site 3 De novo Pilz et al. [1998]
Partial
deletions
LP 85-002 F 2 Rearrangement Deletion 2 De novo Cardoso et al. [2000]
Southern
LP 91-022 M 2 to 7 Rearrangement Deletion 3 De novo Cardoso et al. [2000]
Southern
LP 88-009 F 2, 3 Rearrangement Deletion 2 De novo Cardoso et al. [2000]
Southern
LP 90-012 F 3, 4, 5 Rearrangement Deletion 2 De novo Pilz et al. [1998a]
Southern
LP 97-064 F 3, 4 ,5 Rearrangement Deletion 2 De novo Pilz et al. [1998a]
Southern
ILS-F01 F 3¢end Rearrangement Deletion 2 De novo Fogli et al. [1999]
Southern
All novel reported mutations (in bold face type) have been confirmed as causative by showing their absence in 100 controls and have

TABLE 2. LIS1 Polymorphic Variants
Position in Nucleotide Sequence Frequency
the gene change variation (estimation) Reference
Intron 6 c.568+27T>C Intronic ~1.5% This report
Exon 8 687A>T T229T Rare (1 case) Cardoso et al. [2000]
Exon 11 1188C>T V396V Rare (1 case) Cardoso et al. [2000]
Exon 11 1236T>G 3¢UTR ~10% Cardoso et al. [2000]
Exon 11 1250C>T 3¢UTR ~40% Koch et al. [1996]