AustralieFrV1, PascalFrancis, Corpus, bibRecord, 002F17

Periventricular heterotopia, mental retardation, and epilepsy associated with 5ql4.3-ql5 deletion

Identifieur interne : 002F17 ( PascalFrancis/Corpus ); précédent : 002F16; suivant : 002F18

Periventricular heterotopia, mental retardation, and epilepsy associated with 5ql4.3-ql5 deletion

Auteurs : C. Cardoso ; A. Boys ; E. Parrini ; C. Mignon-Ravix ; J. M. Mcmahon ; S. Khantane ; E. Bertini ; E. Pallesi ; C. Missirian ; O. Zuffardi ; F. Novara ; L. Villard ; S. Giglio ; B. Chabrol ; H. R. Slater ; A. Moncla ; I. E. Scheffer ; R. Guerrini

Source :

Neurology [ 0028-3878 ] ; 2009.

RBID : Pascal:09-0141296

Descripteurs français

Pascal (Inist)
- Arriération mentale, Epilepsie, Délétion, Pathologie du système nerveux.

English descriptors

KwdEn :
- Deletion, Epilepsy, Mental retardation, Nervous system diseases.

Abstract

Background: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients have seizures and their cognitive level varies from normal to severely impaired. At present, two genes have been identified to cause PH when mutated. Mutations in FLNA (Xq28) and ARF-GEF2 (20q13) are responsible for X-linked bilateral PH and a rare autosomal recessive form of PH with microcephaly. Chromosomal rearrangements involving the 1p36, 5p15, and 7qll regions have also been reported in association with PH but the genes implicated remain unknown. Fourteen additional distinct anatomoclinical PH syndromes have been described, but no genetic insights into their causes have been gleaned. Methods: We report the clinical and imaging features of three unrelated patients with epilepsy, mental retardation, and bilateral PH in the walls of the temporal horns of the lateral ventricles, associated with a de novo deletion of the 5q14.3-15 region. We used microarray-based comparative genomic hybridization to define the boundaries of the deletions. Results: The three patients shared a common deleted region spanning 5.8 Mb and containing 14 candidate genes. Conclusion: We identified a new syndrome featuring bilateral periventricular heterotopia (PH), mental retardation, and epilepsy, mapping to chromosome 5q14.3-q15. This observation reinforces the extreme clinical and genetic heterogeneity of PH. Array comparative genomic hybridization is a powerful diagnostic tool for characterizing causative chromosomal rearrangements of limited size, identifying potential candidate genes for, and improving genetic counseling in, malformations of cortical development.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0028-3878`
A02	`01`			`@0 NEURAI`
A03		`1`		`@0 Neurology`
A05				`@2 72`
A06				`@2 9`
A08	`01`	`1`	`ENG`	`@1 Periventricular heterotopia, mental retardation, and epilepsy associated with 5ql4.3-ql5 deletion`
A11	`01`	`1`		`@1 CARDOSO (C.)`
A11	`02`	`1`		`@1 BOYS (A.)`
A11	`03`	`1`		`@1 PARRINI (E.)`
A11	`04`	`1`		`@1 MIGNON-RAVIX (C.)`
A11	`05`	`1`		`@1 MCMAHON (J. M.)`
A11	`06`	`1`		`@1 KHANTANE (S.)`
A11	`07`	`1`		`@1 BERTINI (E.)`
A11	`08`	`1`		`@1 PALLESI (E.)`
A11	`09`	`1`		`@1 MISSIRIAN (C.)`
A11	`10`	`1`		`@1 ZUFFARDI (O.)`
A11	`11`	`1`		`@1 NOVARA (F.)`
A11	`12`	`1`		`@1 VILLARD (L.)`
A11	`13`	`1`		`@1 GIGLIO (S.)`
A11	`14`	`1`		`@1 CHABROL (B.)`
A11	`15`	`1`		`@1 SLATER (H. R.)`
A11	`16`	`1`		`@1 MONCLA (A.)`
A11	`17`	`1`		`@1 SCHEFFER (I. E.)`
A11	`18`	`1`		`@1 GUERRINI (R.)`
A14	`01`			`@1 INSERM U901 INMED, University de la Méditerranee, Campus de Luminy @2 Marseille @3 FRA @Z 1 aut. @Z 6 aut.`
A14	`02`			`@1 INSERM U491 University de la Mediterranee, Faculte de Medecine La Timone @2 Marseille @3 FRA @Z 1 aut. @Z 4 aut. @Z 8 aut. @Z 12 aut.`
A14	`03`			`@1 Victorian Clinical Genetics Services @2 Melbourne @3 AUS @Z 2 aut. @Z 15 aut.`
A14	`04`			`@1 Pediatric Neurology and Neurogenetics Unit and Laboratories, Children's Hospital A. Meyer-Universiry of Florence @3 ITA @Z 3 aut. @Z 18 aut.`
A14	`05`			`@1 Departments of Medicine and Paediatrics The University of Melbourne, Austin Health and Royal Children's Hospital @2 Melbourne @3 AUS @Z 5 aut. @Z 17 aut.`
A14	`06`			`@1 Department of Laboratory Medicine Unit of Molecular Medicine, Bambino Gesù Hospital @2 Rome @3 ITA @Z 7 aut.`
A14	`07`			`@1 Department of Medical Genetics, Timone Children's Hospital @2 Marseille @3 FRA @Z 9 aut. @Z 16 aut.`
A14	`08`			`@1 Genetica Medica Università di Pavia, IRCCS Fondazione Policlinico San Matteo @2 Pavia @3 ITA @Z 10 aut.`
A14	`09`			`@1 Genetica Medica Università di Pavia @3 ITA @Z 11 aut.`
A14	`10`			`@1 Medical Genetics Unit, Children's Hospital A. Meyer-Universiry of Florence @3 ITA @Z 13 aut.`
A14	`11`			`@1 Department of Pediatric Neurology, Timone Children's Hospital @2 Marseille @3 FRA @Z 14 aut.`
A20				`@1 784-792`
A21				`@1 2009`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 6345 @5 354000185529440030`
A44				`@0 0000 @1 © 2009 INIST-CNRS. All rights reserved.`
A45				`@0 40 ref.`
A47	`01`	`1`		`@0 09-0141296`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Neurology`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Background: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients have seizures and their cognitive level varies from normal to severely impaired. At present, two genes have been identified to cause PH when mutated. Mutations in FLNA (Xq28) and ARF-GEF2 (20q13) are responsible for X-linked bilateral PH and a rare autosomal recessive form of PH with microcephaly. Chromosomal rearrangements involving the 1p36, 5p15, and 7qll regions have also been reported in association with PH but the genes implicated remain unknown. Fourteen additional distinct anatomoclinical PH syndromes have been described, but no genetic insights into their causes have been gleaned. Methods: We report the clinical and imaging features of three unrelated patients with epilepsy, mental retardation, and bilateral PH in the walls of the temporal horns of the lateral ventricles, associated with a de novo deletion of the 5q14.3-15 region. We used microarray-based comparative genomic hybridization to define the boundaries of the deletions. Results: The three patients shared a common deleted region spanning 5.8 Mb and containing 14 candidate genes. Conclusion: We identified a new syndrome featuring bilateral periventricular heterotopia (PH), mental retardation, and epilepsy, mapping to chromosome 5q14.3-q15. This observation reinforces the extreme clinical and genetic heterogeneity of PH. Array comparative genomic hybridization is a powerful diagnostic tool for characterizing causative chromosomal rearrangements of limited size, identifying potential candidate genes for, and improving genetic counseling in, malformations of cortical development.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17A03`
C03	`01`	`X`	`FRE`	`@0 Arriération mentale @5 01`
C03	`01`	`X`	`ENG`	`@0 Mental retardation @5 01`
C03	`01`	`X`	`SPA`	`@0 Retraso mental @5 01`
C03	`02`	`X`	`FRE`	`@0 Epilepsie @5 02`
C03	`02`	`X`	`ENG`	`@0 Epilepsy @5 02`
C03	`02`	`X`	`SPA`	`@0 Epilepsia @5 02`
C03	`03`	`X`	`FRE`	`@0 Délétion @5 03`
C03	`03`	`X`	`ENG`	`@0 Deletion @5 03`
C03	`03`	`X`	`SPA`	`@0 Deleción @5 03`
C03	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 04`
C03	`04`	`X`	`ENG`	`@0 Nervous system diseases @5 04`
C03	`04`	`X`	`SPA`	`@0 Sistema nervioso patología @5 04`
C07	`01`	`X`	`FRE`	`@0 Déficience intellectuelle @5 37`
C07	`01`	`X`	`ENG`	`@0 Intellectual deficiency @5 37`
C07	`01`	`X`	`SPA`	`@0 Deficiencia intelectual @5 37`
C07	`02`	`X`	`FRE`	`@0 Trouble du développement @5 38`
C07	`02`	`X`	`ENG`	`@0 Developmental disorder @5 38`
C07	`02`	`X`	`SPA`	`@0 Trastorno desarrollo @5 38`
C07	`03`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 39`
C07	`03`	`X`	`ENG`	`@0 Cerebral disorder @5 39`
C07	`03`	`X`	`SPA`	`@0 Encéfalo patología @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
N21				`@1 096`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 09-0141296 INIST
ET :	Periventricular heterotopia, mental retardation, and epilepsy associated with 5ql4.3-ql5 deletion
AU :	CARDOSO (C.); BOYS (A.); PARRINI (E.); MIGNON-RAVIX (C.); MCMAHON (J. M.); KHANTANE (S.); BERTINI (E.); PALLESI (E.); MISSIRIAN (C.); ZUFFARDI (O.); NOVARA (F.); VILLARD (L.); GIGLIO (S.); CHABROL (B.); SLATER (H. R.); MONCLA (A.); SCHEFFER (I. E.); GUERRINI (R.)
AF :	INSERM U901 INMED, University de la Méditerranee, Campus de Luminy/Marseille/France (1 aut., 6 aut.); INSERM U491 University de la Mediterranee, Faculte de Medecine La Timone/Marseille/France (1 aut., 4 aut., 8 aut., 12 aut.); Victorian Clinical Genetics Services/Melbourne/Australie (2 aut., 15 aut.); Pediatric Neurology and Neurogenetics Unit and Laboratories, Children's Hospital A. Meyer-Universiry of Florence/Italie (3 aut., 18 aut.); Departments of Medicine and Paediatrics The University of Melbourne, Austin Health and Royal Children's Hospital/Melbourne/Australie (5 aut., 17 aut.); Department of Laboratory Medicine Unit of Molecular Medicine, Bambino Gesù Hospital/Rome/Italie (7 aut.); Department of Medical Genetics, Timone Children's Hospital/Marseille/France (9 aut., 16 aut.); Genetica Medica Università di Pavia, IRCCS Fondazione Policlinico San Matteo/Pavia/Italie (10 aut.); Genetica Medica Università di Pavia/Italie (11 aut.); Medical Genetics Unit, Children's Hospital A. Meyer-Universiry of Florence/Italie (13 aut.); Department of Pediatric Neurology, Timone Children's Hospital/Marseille/France (14 aut.)
DT :	Publication en série; Niveau analytique
SO :	Neurology; ISSN 0028-3878; Coden NEURAI; Etats-Unis; Da. 2009; Vol. 72; No. 9; Pp. 784-792; Bibl. 40 ref.
LA :	Anglais
EA :	Background: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients have seizures and their cognitive level varies from normal to severely impaired. At present, two genes have been identified to cause PH when mutated. Mutations in FLNA (Xq28) and ARF-GEF2 (20q13) are responsible for X-linked bilateral PH and a rare autosomal recessive form of PH with microcephaly. Chromosomal rearrangements involving the 1p36, 5p15, and 7qll regions have also been reported in association with PH but the genes implicated remain unknown. Fourteen additional distinct anatomoclinical PH syndromes have been described, but no genetic insights into their causes have been gleaned. Methods: We report the clinical and imaging features of three unrelated patients with epilepsy, mental retardation, and bilateral PH in the walls of the temporal horns of the lateral ventricles, associated with a de novo deletion of the 5q14.3-15 region. We used microarray-based comparative genomic hybridization to define the boundaries of the deletions. Results: The three patients shared a common deleted region spanning 5.8 Mb and containing 14 candidate genes. Conclusion: We identified a new syndrome featuring bilateral periventricular heterotopia (PH), mental retardation, and epilepsy, mapping to chromosome 5q14.3-q15. This observation reinforces the extreme clinical and genetic heterogeneity of PH. Array comparative genomic hybridization is a powerful diagnostic tool for characterizing causative chromosomal rearrangements of limited size, identifying potential candidate genes for, and improving genetic counseling in, malformations of cortical development.
CC :	002B17; 002B17A03
FD :	Arriération mentale; Epilepsie; Délétion; Pathologie du système nerveux
FG :	Déficience intellectuelle; Trouble du développement; Pathologie de l'encéphale; Pathologie du système nerveux central
ED :	Mental retardation; Epilepsy; Deletion; Nervous system diseases
EG :	Intellectual deficiency; Developmental disorder; Cerebral disorder; Central nervous system disease
SD :	Retraso mental; Epilepsia; Deleción; Sistema nervioso patología
LO :	INIST-6345.354000185529440030
ID :	09-0141296

Links to Exploration step

Pascal:09-0141296

Le document en format XML

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<author><name sortKey="Giglio, S" sort="Giglio, S" uniqKey="Giglio S" first="S." last="Giglio">S. Giglio</name>
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<author><name sortKey="Scheffer, I E" sort="Scheffer, I E" uniqKey="Scheffer I" first="I. E." last="Scheffer">I. E. Scheffer</name>
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<author><name sortKey="Guerrini, R" sort="Guerrini, R" uniqKey="Guerrini R" first="R." last="Guerrini">R. Guerrini</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Periventricular heterotopia, mental retardation, and epilepsy associated with 5ql4.3-ql5 deletion</title>
<author><name sortKey="Cardoso, C" sort="Cardoso, C" uniqKey="Cardoso C" first="C." last="Cardoso">C. Cardoso</name>
<affiliation><inist:fA14 i1="01"><s1>INSERM U901 INMED, University de la Méditerranee, Campus de Luminy</s1>
<s2>Marseille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>INSERM U491 University de la Mediterranee, Faculte de Medecine La Timone</s1>
<s2>Marseille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Boys, A" sort="Boys, A" uniqKey="Boys A" first="A." last="Boys">A. Boys</name>
<affiliation><inist:fA14 i1="03"><s1>Victorian Clinical Genetics Services</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
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</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Parrini, E" sort="Parrini, E" uniqKey="Parrini E" first="E." last="Parrini">E. Parrini</name>
<affiliation><inist:fA14 i1="04"><s1>Pediatric Neurology and Neurogenetics Unit and Laboratories, Children's Hospital A. Meyer-Universiry of Florence</s1>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Mignon Ravix, C" sort="Mignon Ravix, C" uniqKey="Mignon Ravix C" first="C." last="Mignon-Ravix">C. Mignon-Ravix</name>
<affiliation><inist:fA14 i1="02"><s1>INSERM U491 University de la Mediterranee, Faculte de Medecine La Timone</s1>
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<s3>FRA</s3>
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<sZ>1 aut.</sZ>
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<author><name sortKey="Bertini, E" sort="Bertini, E" uniqKey="Bertini E" first="E." last="Bertini">E. Bertini</name>
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<sZ>1 aut.</sZ>
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<sZ>9 aut.</sZ>
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<affiliation><inist:fA14 i1="08"><s1>Genetica Medica Università di Pavia, IRCCS Fondazione Policlinico San Matteo</s1>
<s2>Pavia</s2>
<s3>ITA</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
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<author><name sortKey="Novara, F" sort="Novara, F" uniqKey="Novara F" first="F." last="Novara">F. Novara</name>
<affiliation><inist:fA14 i1="09"><s1>Genetica Medica Università di Pavia</s1>
<s3>ITA</s3>
<sZ>11 aut.</sZ>
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<author><name sortKey="Villard, L" sort="Villard, L" uniqKey="Villard L" first="L." last="Villard">L. Villard</name>
<affiliation><inist:fA14 i1="02"><s1>INSERM U491 University de la Mediterranee, Faculte de Medecine La Timone</s1>
<s2>Marseille</s2>
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<sZ>12 aut.</sZ>
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<author><name sortKey="Giglio, S" sort="Giglio, S" uniqKey="Giglio S" first="S." last="Giglio">S. Giglio</name>
<affiliation><inist:fA14 i1="10"><s1>Medical Genetics Unit, Children's Hospital A. Meyer-Universiry of Florence</s1>
<s3>ITA</s3>
<sZ>13 aut.</sZ>
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<author><name sortKey="Chabrol, B" sort="Chabrol, B" uniqKey="Chabrol B" first="B." last="Chabrol">B. Chabrol</name>
<affiliation><inist:fA14 i1="11"><s1>Department of Pediatric Neurology, Timone Children's Hospital</s1>
<s2>Marseille</s2>
<s3>FRA</s3>
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<author><name sortKey="Slater, H R" sort="Slater, H R" uniqKey="Slater H" first="H. R." last="Slater">H. R. Slater</name>
<affiliation><inist:fA14 i1="03"><s1>Victorian Clinical Genetics Services</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
<sZ>2 aut.</sZ>
<sZ>15 aut.</sZ>
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<author><name sortKey="Moncla, A" sort="Moncla, A" uniqKey="Moncla A" first="A." last="Moncla">A. Moncla</name>
<affiliation><inist:fA14 i1="07"><s1>Department of Medical Genetics, Timone Children's Hospital</s1>
<s2>Marseille</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
<sZ>16 aut.</sZ>
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<author><name sortKey="Scheffer, I E" sort="Scheffer, I E" uniqKey="Scheffer I" first="I. E." last="Scheffer">I. E. Scheffer</name>
<affiliation><inist:fA14 i1="05"><s1>Departments of Medicine and Paediatrics The University of Melbourne, Austin Health and Royal Children's Hospital</s1>
<s2>Melbourne</s2>
<s3>AUS</s3>
<sZ>5 aut.</sZ>
<sZ>17 aut.</sZ>
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<author><name sortKey="Guerrini, R" sort="Guerrini, R" uniqKey="Guerrini R" first="R." last="Guerrini">R. Guerrini</name>
<affiliation><inist:fA14 i1="04"><s1>Pediatric Neurology and Neurogenetics Unit and Laboratories, Children's Hospital A. Meyer-Universiry of Florence</s1>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>18 aut.</sZ>
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<series><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Deletion</term>
<term>Epilepsy</term>
<term>Mental retardation</term>
<term>Nervous system diseases</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Arriération mentale</term>
<term>Epilepsie</term>
<term>Délétion</term>
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<front><div type="abstract" xml:lang="en">Background: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients have seizures and their cognitive level varies from normal to severely impaired. At present, two genes have been identified to cause PH when mutated. Mutations in FLNA (Xq28) and ARF-GEF2 (20q13) are responsible for X-linked bilateral PH and a rare autosomal recessive form of PH with microcephaly. Chromosomal rearrangements involving the 1p36, 5p15, and 7qll regions have also been reported in association with PH but the genes implicated remain unknown. Fourteen additional distinct anatomoclinical PH syndromes have been described, but no genetic insights into their causes have been gleaned. Methods: We report the clinical and imaging features of three unrelated patients with epilepsy, mental retardation, and bilateral PH in the walls of the temporal horns of the lateral ventricles, associated with a de novo deletion of the 5q14.3-15 region. We used microarray-based comparative genomic hybridization to define the boundaries of the deletions. Results: The three patients shared a common deleted region spanning 5.8 Mb and containing 14 candidate genes. Conclusion: We identified a new syndrome featuring bilateral periventricular heterotopia (PH), mental retardation, and epilepsy, mapping to chromosome 5q14.3-q15. This observation reinforces the extreme clinical and genetic heterogeneity of PH. Array comparative genomic hybridization is a powerful diagnostic tool for characterizing causative chromosomal rearrangements of limited size, identifying potential candidate genes for, and improving genetic counseling in, malformations of cortical development.</div>
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<sZ>17 aut.</sZ>
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<s2>Marseille</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
<sZ>16 aut.</sZ>
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<fA14 i1="08"><s1>Genetica Medica Università di Pavia, IRCCS Fondazione Policlinico San Matteo</s1>
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<sZ>10 aut.</sZ>
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<server><NO>PASCAL 09-0141296 INIST</NO>
<ET>Periventricular heterotopia, mental retardation, and epilepsy associated with 5ql4.3-ql5 deletion</ET>
<AU>CARDOSO (C.); BOYS (A.); PARRINI (E.); MIGNON-RAVIX (C.); MCMAHON (J. M.); KHANTANE (S.); BERTINI (E.); PALLESI (E.); MISSIRIAN (C.); ZUFFARDI (O.); NOVARA (F.); VILLARD (L.); GIGLIO (S.); CHABROL (B.); SLATER (H. R.); MONCLA (A.); SCHEFFER (I. E.); GUERRINI (R.)</AU>
<AF>INSERM U901 INMED, University de la Méditerranee, Campus de Luminy/Marseille/France (1 aut., 6 aut.); INSERM U491 University de la Mediterranee, Faculte de Medecine La Timone/Marseille/France (1 aut., 4 aut., 8 aut., 12 aut.); Victorian Clinical Genetics Services/Melbourne/Australie (2 aut., 15 aut.); Pediatric Neurology and Neurogenetics Unit and Laboratories, Children's Hospital A. Meyer-Universiry of Florence/Italie (3 aut., 18 aut.); Departments of Medicine and Paediatrics The University of Melbourne, Austin Health and Royal Children's Hospital/Melbourne/Australie (5 aut., 17 aut.); Department of Laboratory Medicine Unit of Molecular Medicine, Bambino Gesù Hospital/Rome/Italie (7 aut.); Department of Medical Genetics, Timone Children's Hospital/Marseille/France (9 aut., 16 aut.); Genetica Medica Università di Pavia, IRCCS Fondazione Policlinico San Matteo/Pavia/Italie (10 aut.); Genetica Medica Università di Pavia/Italie (11 aut.); Medical Genetics Unit, Children's Hospital A. Meyer-Universiry of Florence/Italie (13 aut.); Department of Pediatric Neurology, Timone Children's Hospital/Marseille/France (14 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Neurology; ISSN 0028-3878; Coden NEURAI; Etats-Unis; Da. 2009; Vol. 72; No. 9; Pp. 784-792; Bibl. 40 ref.</SO>
<LA>Anglais</LA>
<EA>Background: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Most affected patients have seizures and their cognitive level varies from normal to severely impaired. At present, two genes have been identified to cause PH when mutated. Mutations in FLNA (Xq28) and ARF-GEF2 (20q13) are responsible for X-linked bilateral PH and a rare autosomal recessive form of PH with microcephaly. Chromosomal rearrangements involving the 1p36, 5p15, and 7qll regions have also been reported in association with PH but the genes implicated remain unknown. Fourteen additional distinct anatomoclinical PH syndromes have been described, but no genetic insights into their causes have been gleaned. Methods: We report the clinical and imaging features of three unrelated patients with epilepsy, mental retardation, and bilateral PH in the walls of the temporal horns of the lateral ventricles, associated with a de novo deletion of the 5q14.3-15 region. We used microarray-based comparative genomic hybridization to define the boundaries of the deletions. Results: The three patients shared a common deleted region spanning 5.8 Mb and containing 14 candidate genes. Conclusion: We identified a new syndrome featuring bilateral periventricular heterotopia (PH), mental retardation, and epilepsy, mapping to chromosome 5q14.3-q15. This observation reinforces the extreme clinical and genetic heterogeneity of PH. Array comparative genomic hybridization is a powerful diagnostic tool for characterizing causative chromosomal rearrangements of limited size, identifying potential candidate genes for, and improving genetic counseling in, malformations of cortical development.</EA>
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<FD>Arriération mentale; Epilepsie; Délétion; Pathologie du   système nerveux</FD>
<FG>Déficience intellectuelle; Trouble du développement; Pathologie de l'encéphale; Pathologie du   système nerveux central</FG>
<ED>Mental retardation; Epilepsy; Deletion; Nervous system diseases</ED>
<EG>Intellectual deficiency; Developmental disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Retraso mental; Epilepsia; Deleción; Sistema nervioso patología</SD>
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   |étape=   Corpus
   |type=    RBID
   |clé=     Pascal:09-0141296
   |texte=   Periventricular heterotopia, mental retardation, and epilepsy associated with 5ql4.3-ql5 deletion
}}

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	Serveur d'exploration sur les relations entre la France et l'Australie
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Serveur d'exploration sur les relations entre la France et l'Australie

Periventricular heterotopia, mental retardation, and epilepsy associated with 5ql4.3-ql5 deletion

Periventricular heterotopia, mental retardation, and epilepsy associated with 5ql4.3-ql5 deletion

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