Syndromes with lissencephaly. I: Millerdieker and Norman‐Roberts syndromes and isolated lissencephaly

Dobyns, William B.; Stratton, Robert F.; Greenberg, Frank

doi:10.1002/ajmg.1320180320

Cited by 199 publications

(93 citation statements)

References 29 publications

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“…Classical or type I lissencephaly defines a subgroup of human neuronal migration disorders characterized by generalized agyria (absence of gyri) and pachygyria (reduced numbers of broadened gyri), four abnormal cortical layers, enlarged ventricles, and generalized neuronal heterotopias (Barkovich et al 1991;Dobyns and Truwit 1995;Dobyns et al 1996). Isolated lissencephaly sequence (ILS) is a heterogeneous disorder consisting of variably severe lissencephaly with no other major malformations, whereas Miller-Dieker syndrome (MDS) consists of a generally more severe classical lissencephaly than ILS, characteristic craniofacial anomalies (microcephaly with bitemporal narrowing, a high forehead, a small nose with anteverted nares, thin vermilion border, and micrognathia), and occasionally other malformations (Dobyns et al 1984). Children with ILS and MDS are severely retarded, have epilepsy, and usu- Cold Spring Harbor Laboratory Press on May 11, 2018 -Published by genesdev.cshlp.org Downloaded from…”

Section: Human Lissencephaly and Lis1mentioning

confidence: 99%

LIS1 and dynein motor function in neuronal migration and development

2001

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Neuronal migration has been studied extensively for over 30 years in diverse mammalian species from the mouse to human. The sequence of events that occurs during cortical development is shared by all of these species (for reviews, see Gleeson and Walsh 2000;Walsh and Goffinet 2000). At the time of neurogenesis, neural precursors proliferate and differentiate into young postmitotic neurons. These postmitotic immature neurons migrate from the ventricular zone (VZ) to a layer called the preplate at the surface of the developing cerebral cortex. The first migrating neurons split the preplate and form the cortical plate, which develops into the cortex. As migration from the VZ continues, cortical lamination is established in an inside-out fashion. The earliest-born neurons end up deep in the cortex, as later-born neurons migrate past them toward the pial surface to establish more superficial layers of the cortex. The latest-born neurons reside near the pial surface. In the final stages of cortical development, synaptogenesis and apoptotic elimination of populations of neurons occur. Physically, the migration of neurons require the same three steps necessary for migration of any cell: The extension of the leading edge that explores its environment for attractive and repulsive signals; the movement of the nucleus into the leading process, called nucleokinesis; and the retraction of the trailing process.The understanding of the process of mammalian neuronal migration resulted primarily from neurobiological studies of brain development in normal mammals and mutant mice such as reeler. These studies provided important insight into the laminar development of the CNS. However, they did not identify the genetic and developmental pathways that regulate neuronal migration. Cloning of disease genes for human neuronal migration defects and mouse mutants have provided critical entry points into these pathways, whereas genetic and cell biological studies have guided our understanding of the function of these gene products in neuronal migration. For example, cloning of the gene mutated in reeler and the identification of its protein product RELN led to the elucidation of a RELN-dependent signal transduction pathway (for recent review, see Rice and Curran 1999). Other genes have been identified that are responsible for neuronal migration defects in the human (LIS1 and DCX) and mouse (Cdk5 and its required activators p35 and p39), but until recently, the relationship between these genes involved in migration were unknown.Several recent studies have demonstrated that LIS1, the protein product of a gene mutated in the human neuronal migration defect lissencephaly, binds to and regulates dynein motor function in the cell. These studies place LIS1 in the midst of a well-studied motor complex important for several critical cell functions and perhaps provide a context for integrating several neuronal migration pathways. In this review, we will provide some background on the human and mouse studies that provided the entry points to neuronal...

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Section: Human Lissencephaly and Lis1mentioning

confidence: 99%

LIS1 and dynein motor function in neuronal migration and development

2001

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“…Miller-Dieker syndrome (MDS) is a rare disorder manifested by characteristic facial abnormalities and classical, or type I, lissencephaly (smooth brain) (1). The facial abnormalities include bitemporal hollowing, prominent forehead, short nose with upturned nares, prominent upper lip, and micrognathia.…”

mentioning

confidence: 99%

Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region.

Ledbetter

vanTuinen

et al. 1989

Proc. Natl. Acad. Sci. U.S.A.

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The Miller-Dieker syndrome (MDS), composed of characteristic facial abnormalities and a severe neuronal migration disorder affecting the cerebral cortex, is caused by visible or submicroscopic deletions of chromosome band 17pl3. Twelve anonymous DNA markers were tested against a panel of somatic cell hybrids containing 17p deletions from seven MDS patients. All patients, including three with normal karyotypes, are deleted for a variable set of 5-12 markers. Two highly polymorphic VNTR (variable number of tandem repeats) probes, YNZ22 and YNH37, are codeleted in all patients tested and make molecular diagnosis for this disorder feasible. By pulsed-field gel electrophoresis, YNZ22 and YNH37 were shown to be within 30 kilobases (kb) of each other. Cosmid clones containing both VNTR sequences were identified, and restriction mapping showed them to be <15 kb apart. Three overlapping cosmids spanning >100 kb were completely deleted in all patients, providing a minimum estimate of the size of the MDS critical region. 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. The conserved sequences were mapped to mouse chromosome 11 by using mouse-rat somatic cell hybrids, extending the remarkable homology between human chromosome 17 and mouse chromosome 11 by 30 centimorgans, into the 17p telomere region.

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“…The specific gene(s) for other features of WS including growth retardation, hypercalcemia, renal anomalies, and mental retardation are still unknown (Ewart et al 1993). Miller-Dieker syndrome (MDS) is a multiple malformation syndrome characterized by lissencephaly and facial abnormalities (Dobyns et al 1984). LIS1, the gene inside the MDS critical region, encodes a subunit of the brain platelet-activating factor acetylhydrolase (PAFAH), and is responsible only for brain malformation (Hirotsune et al 1998;Pilz et al 1998).…”

Section: One or More Sms-causing Genes?mentioning

confidence: 99%

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Bi¹,

Yan²,

Stankiewicz³

et al. 2002

Genome Res.

102

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Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and sleep disturbance. Most patients have the same ∼4 Mb interstitial genomic deletion within chromosome 17p11.2. To investigate the molecular bases of the SMS phenotype, we constructed BAC/PAC contigs covering the SMS common deletion interval and its syntenic region on mouse chromosome 11. Comparative genome analysis reveals the absence of all three ∼200-kb SMS-REP low-copy repeats in the mouse and indicates that the evolution of SMS-REPs was accompanied by transposition of adjacent genes. Physical and genetic map comparisons in humans reveal reduced recombination in both sexes. Moreover, by examining the deleted regions in SMS patients with unusual-sized deletions, we refined the minimal Smith-Magenis critical region (SMCR) to an ∼1.1-Mb genomic interval that is syntenic to an ∼1.0-Mb region in the mouse. Genes within the SMCR and its mouse syntenic region were identified by homology searches and by gene prediction programs, and their gene structures and expression profiles were characterized. In addition to 12 genes previously mapped, we identified 8 new genes and 10 predicted genes in the SMCR. In the mouse syntenic region of the human SMCR, 16 genes and 6 predicted genes were identified. The SMCR is highly conserved between humans and mice, including 19 genes with the same gene order and orientation. Our findings will facilitate both the identification of gene(s) responsible for the SMS phenotype and the engineering of an SMS mouse model.

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Syndromes with lissencephaly. I: Millerdieker and Norman‐Roberts syndromes and isolated lissencephaly

Cited by 199 publications

References 29 publications

LIS1 and dynein motor function in neuronal migration and development

LIS1 and dynein motor function in neuronal migration and development

Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region.

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

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