Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders
Identifieur interne : 007104 ( Main/Exploration ); précédent : 007103; suivant : 007105Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders
Auteurs : Rose White [Australie] ; Gladys Ho [Australie] ; Swetlana Schmidt [Allemagne] ; Ingrid E. Scheffer [Australie] ; Alexandra Fischer [Australie] ; Simone C. Yendle [Australie] ; Thierry Bienvenu [France] ; Juliette Nectoux [France] ; Carolyn J. Ellaway [Australie] ; Artur Darmanian [Australie] ; Xingzhang Tong [Australie] ; Desiree Cloosterman [Australie] ; Bruce Bennetts [Australie] ; Veena Kalra [Inde] ; Tod Fullston [Australie] ; Jozef Gecz [Australie] ; Timothy C. Cox [États-Unis] ; John Christodoulou [Australie]Source :
- Twin Research and Human Genetics [ 1832-4274 ] ; 2010-04-01.
Abstract
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting females almost exclusively and is characterized by a wide spectrum of clinical manifestations. Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene have been found in up to 95% of classical RTT cases and a lesser proportion of atypical cases. Recently, mutations in another X-linked gene, CDKL5 (cyclin-dependent kinase-like 5) have been found to cause atypical RTT, in particular the early onset seizure (Hanefeld variant) and one female with autism. In this study we screened several cohorts of children for CDKL5 mutations, totaling 316 patients, including individuals with a clinical diagnosis of RTT but who were negative for MECP2 mutations (n = 102), males with X-linked mental retardation (n = 9), patients with West syndrome (n = 52), patients with autism (n = 59), patients with epileptic encephalopathy (n = 33), patients with Aicardi syndrome (n = 7) and other patients with intellectual disability with or without seizures (n = 54). In all, seven polymorphic variations and four de novo mutations (c.586C>T [p.S196L]; c.58G>C [p.G20R]; c.2504delC [p.P835fs]; deletion of exons 1 - 3) were identified, and in all instances of the latter the clinical phenotype was that of an epileptic encephalopathy. These results suggest that pathogenic CDKL5 mutations are unlikely to be identified in the absence of severe early-onset seizures and highlight the importance of screening for large intragenic and whole gene deletions.
Url:
DOI: 10.1375/twin.13.2.168
Affiliations:
- Allemagne, Australie, France, Inde, États-Unis
- Bade-Wurtemberg, District de Karlsruhe, Nouvelle-Galles du Sud, Victoria (État), Washington (État), Île-de-France
- Mannheim, Melbourne, Paris, Sydney
- Université Paris-Descartes, Université de Melbourne, Université de Sydney
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Yendle</name><affiliation wicri:level="4"><country xml:lang="fr">Australie</country><wicri:regionArea>Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region><settlement type="city">Melbourne</settlement></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Bienvenu, Thierry" sort="Bienvenu, Thierry" uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Institut Cochin, CNRS (UMR8104), Inserm, U567, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Nectoux, Juliette" sort="Nectoux, Juliette" uniqKey="Nectoux J" first="Juliette" last="Nectoux">Juliette Nectoux</name><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Institut Cochin, CNRS (UMR8104), Inserm, U567, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Ellaway, Carolyn J" sort="Ellaway, Carolyn J" uniqKey="Ellaway C" first="Carolyn J." last="Ellaway">Carolyn J. Ellaway</name><affiliation wicri:level="4"><country xml:lang="fr">Australie</country><wicri:regionArea>Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics & Child Health, University of Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Darmanian, Artur" sort="Darmanian, Artur" uniqKey="Darmanian A" first="Artur" last="Darmanian">Artur Darmanian</name><affiliation wicri:level="3"><country xml:lang="fr">Australie</country><wicri:regionArea>Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Tong, Xingzhang" sort="Tong, Xingzhang" uniqKey="Tong X" first="Xingzhang" last="Tong">Xingzhang Tong</name><affiliation wicri:level="3"><country xml:lang="fr">Australie</country><wicri:regionArea>Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Cloosterman, Desiree" sort="Cloosterman, Desiree" uniqKey="Cloosterman D" first="Desiree" last="Cloosterman">Desiree Cloosterman</name><affiliation wicri:level="3"><country xml:lang="fr">Australie</country><wicri:regionArea>Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Bennetts, Bruce" sort="Bennetts, Bruce" uniqKey="Bennetts B" first="Bruce" last="Bennetts">Bruce Bennetts</name><affiliation wicri:level="4"><country xml:lang="fr">Australie</country><wicri:regionArea>Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics & Child Health, University of Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Kalra, Veena" sort="Kalra, Veena" uniqKey="Kalra V" first="Veena" last="Kalra">Veena Kalra</name><affiliation wicri:level="1"><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Pediatrics, All-India Institute of Medical Sciences, New Delhi</wicri:regionArea><wicri:noRegion>New Delhi</wicri:noRegion></affiliation></author><author><name sortKey="Fullston, Tod" sort="Fullston, Tod" uniqKey="Fullston T" first="Tod" last="Fullston">Tod Fullston</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Genetic Medicine, Women's and Children's Hospital, Adelaide, Australia; Department of Paediatrics, University of Adelaide, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Genetic Medicine, Women's and Children's Hospital, Adelaide, Australia; Department of Paediatrics, University of Adelaide, Adelaide</wicri:regionArea><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Cox, Timothy C" sort="Cox, Timothy C" uniqKey="Cox T" first="Timothy C." last="Cox">Timothy C. Cox</name><affiliation wicri:level="2"><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Christodoulou, John" sort="Christodoulou, John" uniqKey="Christodoulou J" first="John" last="Christodoulou">John Christodoulou</name><affiliation wicri:level="4"><country wicri:rule="url">Australie</country><wicri:regionArea>Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia; Discipline of Paediatrics & Child Health, University of Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName><orgName type="university">Université de Sydney</orgName></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Australie</country></affiliation></author></analytic><monogr></monogr><series><title level="j">Twin Research and Human Genetics</title><title level="j" type="abbrev">Twin Research and Human Genetics</title><idno type="ISSN">1832-4274</idno><idno type="eISSN">1839-2628</idno><imprint><publisher>Cambridge University Press</publisher><pubPlace>Cambridge, UK</pubPlace><date type="published" when="2010-04-01">2010-04-01</date><biblScope unit="volume">13</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="168">168</biblScope><biblScope unit="page" to="178">178</biblScope></imprint><idno type="ISSN">1832-4274</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1832-4274</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting females almost exclusively and is characterized by a wide spectrum of clinical manifestations. Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene have been found in up to 95% of classical RTT cases and a lesser proportion of atypical cases. Recently, mutations in another X-linked gene, CDKL5 (cyclin-dependent kinase-like 5) have been found to cause atypical RTT, in particular the early onset seizure (Hanefeld variant) and one female with autism. In this study we screened several cohorts of children for CDKL5 mutations, totaling 316 patients, including individuals with a clinical diagnosis of RTT but who were negative for MECP2 mutations (n = 102), males with X-linked mental retardation (n = 9), patients with West syndrome (n = 52), patients with autism (n = 59), patients with epileptic encephalopathy (n = 33), patients with Aicardi syndrome (n = 7) and other patients with intellectual disability with or without seizures (n = 54). In all, seven polymorphic variations and four de novo mutations (c.586C>T [p.S196L]; c.58G>C [p.G20R]; c.2504delC [p.P835fs]; deletion of exons 1 - 3) were identified, and in all instances of the latter the clinical phenotype was that of an epileptic encephalopathy. These results suggest that pathogenic CDKL5 mutations are unlikely to be identified in the absence of severe early-onset seizures and highlight the importance of screening for large intragenic and whole gene deletions.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>France</li><li>Inde</li><li>États-Unis</li></country><region><li>Bade-Wurtemberg</li><li>District de Karlsruhe</li><li>Nouvelle-Galles du Sud</li><li>Victoria (État)</li><li>Washington (État)</li><li>Île-de-France</li></region><settlement><li>Mannheim</li><li>Melbourne</li><li>Paris</li><li>Sydney</li></settlement><orgName><li>Université Paris-Descartes</li><li>Université de Melbourne</li><li>Université de Sydney</li></orgName></list><tree><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="White, Rose" sort="White, Rose" uniqKey="White R" first="Rose" last="White">Rose White</name></region><name sortKey="Bennetts, Bruce" sort="Bennetts, Bruce" uniqKey="Bennetts B" first="Bruce" last="Bennetts">Bruce Bennetts</name><name sortKey="Christodoulou, John" sort="Christodoulou, John" uniqKey="Christodoulou J" first="John" last="Christodoulou">John Christodoulou</name><name sortKey="Christodoulou, John" sort="Christodoulou, John" uniqKey="Christodoulou J" first="John" last="Christodoulou">John Christodoulou</name><name sortKey="Cloosterman, Desiree" sort="Cloosterman, Desiree" uniqKey="Cloosterman D" first="Desiree" last="Cloosterman">Desiree Cloosterman</name><name sortKey="Darmanian, Artur" sort="Darmanian, Artur" uniqKey="Darmanian A" first="Artur" last="Darmanian">Artur Darmanian</name><name sortKey="Ellaway, Carolyn J" sort="Ellaway, Carolyn J" uniqKey="Ellaway C" first="Carolyn J." last="Ellaway">Carolyn J. Ellaway</name><name sortKey="Fischer, Alexandra" sort="Fischer, Alexandra" uniqKey="Fischer A" first="Alexandra" last="Fischer">Alexandra Fischer</name><name sortKey="Fullston, Tod" sort="Fullston, Tod" uniqKey="Fullston T" first="Tod" last="Fullston">Tod Fullston</name><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><name sortKey="Ho, Gladys" sort="Ho, Gladys" uniqKey="Ho G" first="Gladys" last="Ho">Gladys Ho</name><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><name sortKey="Tong, Xingzhang" sort="Tong, Xingzhang" uniqKey="Tong X" first="Xingzhang" last="Tong">Xingzhang Tong</name><name sortKey="Yendle, Simone C" sort="Yendle, Simone C" uniqKey="Yendle S" first="Simone C." last="Yendle">Simone C. Yendle</name></country><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Schmidt, Swetlana" sort="Schmidt, Swetlana" uniqKey="Schmidt S" first="Swetlana" last="Schmidt">Swetlana Schmidt</name></region></country><country name="France"><region name="Île-de-France"><name sortKey="Bienvenu, Thierry" sort="Bienvenu, Thierry" uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name></region><name sortKey="Nectoux, Juliette" sort="Nectoux, Juliette" uniqKey="Nectoux J" first="Juliette" last="Nectoux">Juliette Nectoux</name></country><country name="Inde"><noRegion><name sortKey="Kalra, Veena" sort="Kalra, Veena" uniqKey="Kalra V" first="Veena" last="Kalra">Veena Kalra</name></noRegion></country><country name="États-Unis"><region name="Washington (État)"><name sortKey="Cox, Timothy C" sort="Cox, Timothy C" uniqKey="Cox T" first="Timothy C." last="Cox">Timothy C. 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