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Article

Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

1 Feb 1997

Abstract excerpt

Classical lissencephaly (smooth brain) or generalized agyria-pachygyria is a severe brain malformation which results from an arrest of neuronal migration at 9-13 weeks gestation. It has been observed in several malformation syndromes including Miller-Dieker syndrome (MDS) and isolated lissencephaly sequence (ILS). A gene containing beta-transducin like repeats, now known as LIS1, was previously mapped to the...

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PMID: 9063735
DOI: 10.1093/hmg/6.2.157

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Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker SyndromePMID 9063735Read ↗

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13Semantic proximity Read ↗

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.Semantic proximity Read ↗

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.Semantic proximity Read ↗

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.Semantic proximity Read ↗

Causal heterogeneity in isolated lissencephalySemantic proximity Read ↗

High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosisSemantic proximity Read ↗

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).Semantic proximity Read ↗

A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migrationSemantic proximity Read ↗

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.Semantic proximity Read ↗

LIS1 duplication: expanding the phenotype.Semantic proximity Read ↗

Location and type of mutation in the LIS1 gene do not predict phenotypic severity.Semantic proximity Read ↗

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.Semantic proximity Read ↗

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