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>Aa 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 89-005 M 8 817C>T R273X 3 De novo Lo Nigro et al. [1997]


LP 97-086 F 8 866C>G S289X 3 De novo Cardoso et al. [2000] Small deletions or insertions



TABLE 2. LIS1 Polymorphic Variants


Position in Nucleotide Sequence Frequency


the gene change variation (estimation) Reference


Intron 6 c.568+27bpT>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]





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