AustralieFrV1, PascalFrancis, Corpus, bibRecord, 004775

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

Identifieur interne : 004775 ( PascalFrancis/Corpus ); précédent : 004774; suivant : 004776

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

Auteurs : Hilde Van Esch ; Marijke Bauters ; Jaakko Ignatius ; Mieke Jansen ; Martine Raynaud ; Karen Hollanders ; Dorien Lugtenberg ; Thierry Bienvenu ; Lars Riff Jensen ; Jozef Gecz ; Claude Moraine ; Peter Marynen ; Jean-Pierre Fryns ; Guy Froyen

Source :

American journal of human genetics [ 0002-9297 ] ; 2005.

RBID : Pascal:05-0404620

Descripteurs français

Pascal (Inist)
- Arriération mentale, Duplication chromosomique, Grave, Progressif, Système nerveux, Symptomatologie, Mâle, Génétique, Homme.

English descriptors

KwdEn :
- Chromosome duplication, Genetics, Human, Male, Mental retardation, Nervous system, Progressive, Severe, Symptomatology.

Abstract

Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males. By array comparative genomic hybridization (array-CGH), we identified a small duplication at Xq28 in a large family with a severe form of MR associated with progressive spasticity. Screening by real-time quantitation of 17 additional patients with MR who have similar phenotypes revealed three more duplications. The duplications in the four patients vary in size from 0.4 to 0.8 Mb and harbor several genes, which, for each duplication, include the MR-related L1AM and MECP2 genes. The proximal breakpoints are located within a 250-kb region centromeric of L1CAM, whereas the distal breakpoints are located in a 300-kb interval telomeric of MECP2. The precise size and location of each duplication is different in the four patients. The duplications segregate with the disease in the families, and asymptomatic carrier females show complete skewing of X inactivation. Comparison of the clinical features in these patients and in a previously reported patient enables refinement of the genotype-phenotype correlation and strongly suggests that increased dosage of MECP2 results in the MR phenotype. Our findings demonstrate that, in humans, not only impaired or abolished gene function but also increased MeCP2 dosage causes a distinct phenotype. Moreover, duplication of the MECP2 region occurs frequently in male patients with a severe form of MR, which justifies quantitative screening of MECP2 in this group of patients.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A14	`02`			`@1 Human Genome Laboratory, Centre for Human Genetics, Flanders Interuniversity Institute for Biotechnology @2 Leuven @3 BEL @Z 2 aut. @Z 4 aut. @Z 6 aut. @Z 12 aut. @Z 14 aut.`
A14	`03`			`@1 Department of Clinical Genetics, Oulu University Hospital and Oulu University @2 Oulu @3 FIN @Z 3 aut.`
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A14	`07`			`@1 Max Planck Institute for Molecular Genetics @2 Berlin @3 DEU @Z 9 aut.`
A14	`08`			`@1 Department of Genetic Medicine, Women's and Children's Hospital @2 Adelaide @3 AUS @Z 10 aut.`
A14	`09`			`@1 Department of Paediatrics, University of Adelaide @2 Adelaide @3 AUS @Z 10 aut.`
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A21				`@1 2005`
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C01	`01`		`ENG`	@0 Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males. By array comparative genomic hybridization (array-CGH), we identified a small duplication at Xq28 in a large family with a severe form of MR associated with progressive spasticity. Screening by real-time quantitation of 17 additional patients with MR who have similar phenotypes revealed three more duplications. The duplications in the four patients vary in size from 0.4 to 0.8 Mb and harbor several genes, which, for each duplication, include the MR-related L1AM and MECP2 genes. The proximal breakpoints are located within a 250-kb region centromeric of L1CAM, whereas the distal breakpoints are located in a 300-kb interval telomeric of MECP2. The precise size and location of each duplication is different in the four patients. The duplications segregate with the disease in the families, and asymptomatic carrier females show complete skewing of X inactivation. Comparison of the clinical features in these patients and in a previously reported patient enables refinement of the genotype-phenotype correlation and strongly suggests that increased dosage of MECP2 results in the MR phenotype. Our findings demonstrate that, in humans, not only impaired or abolished gene function but also increased MeCP2 dosage causes a distinct phenotype. Moreover, duplication of the MECP2 region occurs frequently in male patients with a severe form of MR, which justifies quantitative screening of MECP2 in this group of patients.
C02	`01`	`X`		`@0 002B23A`
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C03	`02`	`X`	`ENG`	`@0 Chromosome duplication @5 09`
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C03	`05`	`X`	`ENG`	`@0 Nervous system @5 12`
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C03	`09`	`X`	`ENG`	`@0 Human @5 17`
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C07	`01`	`X`	`FRE`	`@0 Chromosome anormal`
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C07	`02`	`X`	`FRE`	`@0 Aberration chromosomique`
C07	`02`	`X`	`ENG`	`@0 Chromosomal aberration`
C07	`02`	`X`	`SPA`	`@0 Aberración cromosómica`
C07	`03`	`X`	`FRE`	`@0 Déficience intellectuelle @5 37`
C07	`03`	`X`	`ENG`	`@0 Intellectual deficiency @5 37`
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Format Inist (serveur)

NO :	PASCAL 05-0404620 INIST
ET :	Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
AU :	VAN ESCH (Hilde); BAUTERS (Marijke); IGNATIUS (Jaakko); JANSEN (Mieke); RAYNAUD (Martine); HOLLANDERS (Karen); LUGTENBERG (Dorien); BIENVENU (Thierry); JENSEN (Lars Riff); GECZ (Jozef); MORAINE (Claude); MARYNEN (Peter); FRYNS (Jean-Pierre); FROYEN (Guy)
AF :	Centre for Human Genetics, University Hospital Gasthuisberg/Allemagne (1 aut., 13 aut.); Human Genome Laboratory, Centre for Human Genetics, Flanders Interuniversity Institute for Biotechnology/Leuven/Belgique (2 aut., 4 aut., 6 aut., 12 aut., 14 aut.); Department of Clinical Genetics, Oulu University Hospital and Oulu University/Oulu/Finlande (3 aut.); Centre Hospitalier Universitaire de Tours, Service de Génétique/Tours/France (5 aut., 11 aut.); Department of Human Genetics, University Medical Centre/Nijmegen/Pays-Bas (7 aut.); Université Paris-Descartes, Faculté de Médecine, INSERM, Centre National de la Récherche Scientifique, Institut Cochin/Paris/France (8 aut.); Max Planck Institute for Molecular Genetics/Berlin/Allemagne (9 aut.); Department of Genetic Medicine, Women's and Children's Hospital/Adelaide/Australie (10 aut.); Department of Paediatrics, University of Adelaide/Adelaide/Australie (10 aut.)
DT :	Publication en série; Niveau analytique
SO :	American journal of human genetics; ISSN 0002-9297; Coden AJHGAG; Etats-Unis; Da. 2005; Vol. 77; No. 3; Pp. 442-453; Bibl. 1 p.1/4
LA :	Anglais
EA :	Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males. By array comparative genomic hybridization (array-CGH), we identified a small duplication at Xq28 in a large family with a severe form of MR associated with progressive spasticity. Screening by real-time quantitation of 17 additional patients with MR who have similar phenotypes revealed three more duplications. The duplications in the four patients vary in size from 0.4 to 0.8 Mb and harbor several genes, which, for each duplication, include the MR-related L1AM and MECP2 genes. The proximal breakpoints are located within a 250-kb region centromeric of L1CAM, whereas the distal breakpoints are located in a 300-kb interval telomeric of MECP2. The precise size and location of each duplication is different in the four patients. The duplications segregate with the disease in the families, and asymptomatic carrier females show complete skewing of X inactivation. Comparison of the clinical features in these patients and in a previously reported patient enables refinement of the genotype-phenotype correlation and strongly suggests that increased dosage of MECP2 results in the MR phenotype. Our findings demonstrate that, in humans, not only impaired or abolished gene function but also increased MeCP2 dosage causes a distinct phenotype. Moreover, duplication of the MECP2 region occurs frequently in male patients with a severe form of MR, which justifies quantitative screening of MECP2 in this group of patients.
CC :	002B23A; 002B18C12
FD :	Arriération mentale; Duplication chromosomique; Grave; Progressif; Système nerveux; Symptomatologie; Mâle; Génétique; Homme
FG :	Chromosome anormal; Aberration chromosomique; Déficience intellectuelle; Trouble développement
ED :	Mental retardation; Chromosome duplication; Severe; Progressive; Nervous system; Symptomatology; Male; Genetics; Human
EG :	Abnormal chromosome; Chromosomal aberration; Intellectual deficiency; Developmental disorder
SD :	Retraso mental; Duplicación cromosómica; Grave; Progresivo; Sistema nervioso; Sintomatología; Macho; Genética; Hombre
LO :	INIST-2610.354000132153230100
ID :	05-0404620

Links to Exploration step

Pascal:05-0404620

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males</title>
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<author><name sortKey="Ignatius, Jaakko" sort="Ignatius, Jaakko" uniqKey="Ignatius J" first="Jaakko" last="Ignatius">Jaakko Ignatius</name>
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<author><name sortKey="Jansen, Mieke" sort="Jansen, Mieke" uniqKey="Jansen M" first="Mieke" last="Jansen">Mieke Jansen</name>
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<author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name>
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<author><name sortKey="Hollanders, Karen" sort="Hollanders, Karen" uniqKey="Hollanders K" first="Karen" last="Hollanders">Karen Hollanders</name>
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<series><title level="j" type="main">American journal of human genetics</title>
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<front><div type="abstract" xml:lang="en">Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males. By array comparative genomic hybridization (array-CGH), we identified a small duplication at Xq28 in a large family with a severe form of MR associated with progressive spasticity. Screening by real-time quantitation of 17 additional patients with MR who have similar phenotypes revealed three more duplications. The duplications in the four patients vary in size from 0.4 to 0.8 Mb and harbor several genes, which, for each duplication, include the MR-related L1AM and MECP2 genes. The proximal breakpoints are located within a 250-kb region centromeric of L1CAM, whereas the distal breakpoints are located in a 300-kb interval telomeric of MECP2. The precise size and location of each duplication is different in the four patients. The duplications segregate with the disease in the families, and asymptomatic carrier females show complete skewing of X inactivation. Comparison of the clinical features in these patients and in a previously reported patient enables refinement of the genotype-phenotype correlation and strongly suggests that increased dosage of MECP2 results in the MR phenotype. Our findings demonstrate that, in humans, not only impaired or abolished gene function but also increased MeCP2 dosage causes a distinct phenotype. Moreover, duplication of the MECP2 region occurs frequently in male patients with a severe form of MR, which justifies quantitative screening of MECP2 in this group of patients.</div>
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<ET>Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males</ET>
<AU>VAN ESCH (Hilde); BAUTERS (Marijke); IGNATIUS (Jaakko); JANSEN (Mieke); RAYNAUD (Martine); HOLLANDERS (Karen); LUGTENBERG (Dorien); BIENVENU (Thierry); JENSEN (Lars Riff); GECZ (Jozef); MORAINE (Claude); MARYNEN (Peter); FRYNS (Jean-Pierre); FROYEN (Guy)</AU>
<AF>Centre for Human Genetics, University Hospital Gasthuisberg/Allemagne (1 aut., 13 aut.); Human Genome Laboratory, Centre for Human Genetics, Flanders Interuniversity Institute for Biotechnology/Leuven/Belgique (2 aut., 4 aut., 6 aut., 12 aut., 14 aut.); Department of Clinical Genetics, Oulu University Hospital and Oulu University/Oulu/Finlande (3 aut.); Centre Hospitalier Universitaire de Tours, Service de Génétique/Tours/France (5 aut., 11 aut.); Department of Human Genetics, University Medical Centre/Nijmegen/Pays-Bas (7 aut.); Université Paris-Descartes, Faculté de Médecine, INSERM, Centre National de la Récherche Scientifique, Institut Cochin/Paris/France (8 aut.); Max Planck Institute for Molecular Genetics/Berlin/Allemagne (9 aut.); Department of Genetic Medicine, Women's and Children's Hospital/Adelaide/Australie (10 aut.); Department of Paediatrics, University of Adelaide/Adelaide/Australie (10 aut.)</AF>
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<EA>Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males. By array comparative genomic hybridization (array-CGH), we identified a small duplication at Xq28 in a large family with a severe form of MR associated with progressive spasticity. Screening by real-time quantitation of 17 additional patients with MR who have similar phenotypes revealed three more duplications. The duplications in the four patients vary in size from 0.4 to 0.8 Mb and harbor several genes, which, for each duplication, include the MR-related L1AM and MECP2 genes. The proximal breakpoints are located within a 250-kb region centromeric of L1CAM, whereas the distal breakpoints are located in a 300-kb interval telomeric of MECP2. The precise size and location of each duplication is different in the four patients. The duplications segregate with the disease in the families, and asymptomatic carrier females show complete skewing of X inactivation. Comparison of the clinical features in these patients and in a previously reported patient enables refinement of the genotype-phenotype correlation and strongly suggests that increased dosage of MECP2 results in the MR phenotype. Our findings demonstrate that, in humans, not only impaired or abolished gene function but also increased MeCP2 dosage causes a distinct phenotype. Moreover, duplication of the MECP2 region occurs frequently in male patients with a severe form of MR, which justifies quantitative screening of MECP2 in this group of patients.</EA>
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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

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