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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

Deletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical thickening; however, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (MDS). At the clinical level, these... Full description

Journal Title: American journal of human genetics 2003, Vol.72 (4), p.918-930
Main Author: Cardoso, Carlos
Other Authors: Leventer, Richard J , Ward, Heather L , Toyo-oka, Kazuhito , Chung, June , Gross, Alyssa , Martin, Christa L , Allanson, Judith , Pilz, Daniela T , Olney, Ann H , Mutchinick, Osvaldo M , Hirotsune, Shinji , Wynshaw-Boris, Anthony , Dobyns, William B , Ledbetter, David H
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: Chicago, IL: Elsevier Inc
ID: ISSN: 0002-9297
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title: 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
format: Article
creator:
  • Cardoso, Carlos
  • Leventer, Richard J
  • Ward, Heather L
  • Toyo-oka, Kazuhito
  • Chung, June
  • Gross, Alyssa
  • Martin, Christa L
  • Allanson, Judith
  • Pilz, Daniela T
  • Olney, Ann H
  • Mutchinick, Osvaldo M
  • Hirotsune, Shinji
  • Wynshaw-Boris, Anthony
  • Dobyns, William B
  • Ledbetter, David H
subjects:
  • 1-Alkyl-2-acetylglycerophosphocholine Esterase
  • Abnormalities, Multiple - genetics
  • Articles
  • Base Sequence
  • Biological and medical sciences
  • Chromosome Deletion
  • Chromosomes, Human, Pair 17
  • Congenital Abnormalities - genetics
  • DNA Primers
  • Encephalopathy
  • Female
  • Genetic aspects
  • Genetics
  • Genetics(clinical)
  • Genotype
  • hemic
  • Humans
  • Infant
  • lymphatic diseases
  • Male
  • Malformations of the nervous system
  • Medical sciences
  • Microtubule-Associated Proteins - genetics
  • Molecular Sequence Data
  • Neurology
  • Phenotype
  • Retrospective Studies
  • Syndrome
  • Telomere - genetics
  • Transcription, Genetic
ispartof: American journal of human genetics, 2003, Vol.72 (4), p.918-930
description: Deletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical thickening; however, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (MDS). At the clinical level, these two phenotypes can be differentiated by the presence of significant dysmorphic facial features and a more severe grade of lissencephaly in MDS. Previous work has suggested that children with MDS have a larger deletion than those with ILS, but the precise boundaries of the MDS critical region and causative genes other than LIS1 have never been fully determined. We have completed a physical and transcriptional map of the 17p13.3 region from LIS1 to the telomere. Using fluorescence in situ hybridization, we have mapped the deletion size in 19 children with ILS, 11 children with MDS, and 4 children with 17p13.3 deletions not involving LIS1. We show that the critical region that differentiates ILS from MDS at the molecular level can be reduced to 400 kb. Using somatic cell hybrids from selected patients, we have identified eight genes that are consistently deleted in patients classified as having MDS. In addition, deletion of the genes CRK and 14-3-3ɛ delineates patients with the most severe lissencephaly grade. On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3ɛ in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


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titleRefinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3
sourceAlma/SFX Local Collection
creatorCardoso, Carlos ; Leventer, Richard J ; Ward, Heather L ; Toyo-oka, Kazuhito ; Chung, June ; Gross, Alyssa ; Martin, Christa L ; Allanson, Judith ; Pilz, Daniela T ; Olney, Ann H ; Mutchinick, Osvaldo M ; Hirotsune, Shinji ; Wynshaw-Boris, Anthony ; Dobyns, William B ; Ledbetter, David H
creatorcontribCardoso, Carlos ; Leventer, Richard J ; Ward, Heather L ; Toyo-oka, Kazuhito ; Chung, June ; Gross, Alyssa ; Martin, Christa L ; Allanson, Judith ; Pilz, Daniela T ; Olney, Ann H ; Mutchinick, Osvaldo M ; Hirotsune, Shinji ; Wynshaw-Boris, Anthony ; Dobyns, William B ; Ledbetter, David H
descriptionDeletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical thickening; however, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (MDS). At the clinical level, these two phenotypes can be differentiated by the presence of significant dysmorphic facial features and a more severe grade of lissencephaly in MDS. Previous work has suggested that children with MDS have a larger deletion than those with ILS, but the precise boundaries of the MDS critical region and causative genes other than LIS1 have never been fully determined. We have completed a physical and transcriptional map of the 17p13.3 region from LIS1 to the telomere. Using fluorescence in situ hybridization, we have mapped the deletion size in 19 children with ILS, 11 children with MDS, and 4 children with 17p13.3 deletions not involving LIS1. We show that the critical region that differentiates ILS from MDS at the molecular level can be reduced to 400 kb. Using somatic cell hybrids from selected patients, we have identified eight genes that are consistently deleted in patients classified as having MDS. In addition, deletion of the genes CRK and 14-3-3ɛ delineates patients with the most severe lissencephaly grade. On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3ɛ in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS.
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subject1-Alkyl-2-acetylglycerophosphocholine Esterase ; Abnormalities, Multiple - genetics ; Articles ; Base Sequence ; Biological and medical sciences ; Chromosome Deletion ; Chromosomes, Human, Pair 17 ; Congenital Abnormalities - genetics ; DNA Primers ; Encephalopathy ; Female ; Genetic aspects ; Genetics ; Genetics(clinical) ; Genotype ; hemic ; Humans ; Infant ; lymphatic diseases ; Male ; Malformations of the nervous system ; Medical sciences ; Microtubule-Associated Proteins - genetics ; Molecular Sequence Data ; Neurology ; Phenotype ; Retrospective Studies ; Syndrome ; Telomere - genetics ; Transcription, Genetic
ispartofAmerican journal of human genetics, 2003, Vol.72 (4), p.918-930
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0Cardoso, Carlos
1Leventer, Richard J
2Ward, Heather L
3Toyo-oka, Kazuhito
4Chung, June
5Gross, Alyssa
6Martin, Christa L
7Allanson, Judith
8Pilz, Daniela T
9Olney, Ann H
10Mutchinick, Osvaldo M
11Hirotsune, Shinji
12Wynshaw-Boris, Anthony
13Dobyns, William B
14Ledbetter, David H
title
0Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3
1American journal of human genetics
addtitleAm J Hum Genet
descriptionDeletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical thickening; however, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (MDS). At the clinical level, these two phenotypes can be differentiated by the presence of significant dysmorphic facial features and a more severe grade of lissencephaly in MDS. Previous work has suggested that children with MDS have a larger deletion than those with ILS, but the precise boundaries of the MDS critical region and causative genes other than LIS1 have never been fully determined. We have completed a physical and transcriptional map of the 17p13.3 region from LIS1 to the telomere. Using fluorescence in situ hybridization, we have mapped the deletion size in 19 children with ILS, 11 children with MDS, and 4 children with 17p13.3 deletions not involving LIS1. We show that the critical region that differentiates ILS from MDS at the molecular level can be reduced to 400 kb. Using somatic cell hybrids from selected patients, we have identified eight genes that are consistently deleted in patients classified as having MDS. In addition, deletion of the genes CRK and 14-3-3ɛ delineates patients with the most severe lissencephaly grade. On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3ɛ in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS.
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01-Alkyl-2-acetylglycerophosphocholine Esterase
1Abnormalities, Multiple - genetics
2Articles
3Base Sequence
4Biological and medical sciences
5Chromosome Deletion
6Chromosomes, Human, Pair 17
7Congenital Abnormalities - genetics
8DNA Primers
9Encephalopathy
10Female
11Genetic aspects
12Genetics
13Genetics(clinical)
14Genotype
15hemic
16Humans
17Infant
18lymphatic diseases
19Male
20Malformations of the nervous system
21Medical sciences
22Microtubule-Associated Proteins - genetics
23Molecular Sequence Data
24Neurology
25Phenotype
26Retrospective Studies
27Syndrome
28Telomere - genetics
29Transcription, Genetic
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titleRefinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3
authorCardoso, Carlos ; Leventer, Richard J ; Ward, Heather L ; Toyo-oka, Kazuhito ; Chung, June ; Gross, Alyssa ; Martin, Christa L ; Allanson, Judith ; Pilz, Daniela T ; Olney, Ann H ; Mutchinick, Osvaldo M ; Hirotsune, Shinji ; Wynshaw-Boris, Anthony ; Dobyns, William B ; Ledbetter, David H
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01-Alkyl-2-acetylglycerophosphocholine Esterase
1Abnormalities, Multiple - genetics
2Articles
3Base Sequence
4Biological and medical sciences
5Chromosome Deletion
6Chromosomes, Human, Pair 17
7Congenital Abnormalities - genetics
8DNA Primers
9Encephalopathy
10Female
11Genetic aspects
12Genetics
13Genetics(clinical)
14Genotype
15hemic
16Humans
17Infant
18lymphatic diseases
19Male
20Malformations of the nervous system
21Medical sciences
22Microtubule-Associated Proteins - genetics
23Molecular Sequence Data
24Neurology
25Phenotype
26Retrospective Studies
27Syndrome
28Telomere - genetics
29Transcription, Genetic
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0Cardoso, Carlos
1Leventer, Richard J
2Ward, Heather L
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5Gross, Alyssa
6Martin, Christa L
7Allanson, Judith
8Pilz, Daniela T
9Olney, Ann H
10Mutchinick, Osvaldo M
11Hirotsune, Shinji
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atitleRefinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3
jtitleAmerican journal of human genetics
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abstractDeletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical thickening; however, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (MDS). At the clinical level, these two phenotypes can be differentiated by the presence of significant dysmorphic facial features and a more severe grade of lissencephaly in MDS. Previous work has suggested that children with MDS have a larger deletion than those with ILS, but the precise boundaries of the MDS critical region and causative genes other than LIS1 have never been fully determined. We have completed a physical and transcriptional map of the 17p13.3 region from LIS1 to the telomere. Using fluorescence in situ hybridization, we have mapped the deletion size in 19 children with ILS, 11 children with MDS, and 4 children with 17p13.3 deletions not involving LIS1. We show that the critical region that differentiates ILS from MDS at the molecular level can be reduced to 400 kb. Using somatic cell hybrids from selected patients, we have identified eight genes that are consistently deleted in patients classified as having MDS. In addition, deletion of the genes CRK and 14-3-3ɛ delineates patients with the most severe lissencephaly grade. On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3ɛ in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS.
copChicago, IL
pubElsevier Inc
pmid12621583
doi10.1086/374320
oafree_for_read