Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

@article{Reiner1993IsolationOA,
  title={Isolation of a Miller–Dicker lissencephaly gene containing G protein $\beta$-subunit-like repeats},
  author={Orly Reiner and Romeo Carrozzo and Ying Shen and Manfred S. Wehnert and Fabrizia Faustinella and William B. Dobyns and Charles Thomas Caskey and David H. Ledbetter},
  journal={Nature},
  year={1993},
  volume={364},
  pages={717-721}
}
LISSENCEPHALY (agyria-pachygyria) is a human brain malformation manifested by a smooth cerebral surface and abnormal neuronal migration1,2. Identification of the gene(s) involved in this disorder would facilitate molecular dissection of normal events in brain development3. Type 1 lissencephaly occurs either as an isolated abnormality or in association with dysmorphic facial appearance in patients with Miller–Dieker syndrome4,5. About 15% of patients with isolated lissencephaly and more than 90… 

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.

TLDR
LIS1 is confirmed as the gene responsible for classical lissencephaly in ILS and MDS and band-shifts for three patients, each involving a different coding exon, which were not observed in their respective parental DNAs are confirmed.

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

TLDR
Fluorescence in situ hybridization analysis of an ILS patient with a de novo balanced translocation, as well as analysis of several other key MDS and ILS deletion patients, localizes the lissencephaly critical region within the LIS1 gene, supporting the original concept MDS as a contiguous gene deletion syndrome.

Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region.

TLDR
The results demonstrate that the MDS region is conserved between human and mouse and suggests that the mouse can be used to model microdeletions that occur in ILS and MDS.

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

TLDR
Using a spectrum of ILS patients, it is confirmed the importance of specific WD40 repeats and a putative microtubule-binding domain for PAFAH1B1 function and hypothesize that the greater lissencephaly severity seen in Miller-Dieker syndrome may be secondary to the loss of another cortical development gene in the deletion of 17p13.3.

Genotype-phenotype correlations for the type 1 lissencephaly of eight Tunisian children Journal of Clinical Images and Medical Case Reports

TLDR
The data confirm the individuality and originality of type 1 lissencephaly on both the phenotypic and the genetic lev -els and spotlight the usefulness of developing approaches and methods for detecting a large number of known causative gene mutations.

Differences in the gyral pattern distinguish chromosome 17–linked and X-linked lissencephaly

TLDR
Genotype-phenotype analysis in children with lissencephaly associated with mutations of different genes found consistent differences in the gyral patterns, with the malformation more severe posteriorly in individuals with LIS1 mutations and more severe anteriorly in Individuals with XLIS mutations.

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

TLDR
Deletions of the lissencephaly critical region in chromosome 17p13.3, including LIS1, appear to be the most frequent cause of classical lissENCEphaly.

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

TLDR
Retrospective examination of MR images suggests that patients with TUBA1A mutations share not only cortical dysgenesis, but also cerebellar, hippocampal, corpus callosum, and brainstem abnormalities, and highlights the importance of the MTs/DCX complex in the neuronal migration process.
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TLDR
Investigation of the possibility that some ILS patients have smaller deletions in this chromosomal region found in situ hybridization proved to be the most rapid and sensitive method of deletion detection.

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TLDR
A hypomethylated island and evolutionarily conserved sequences were identified within this 100-kb region, indications of the presence of one or more expressed sequences potentially involved in the pathophysiology of this disorder.

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TLDR
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