Genetics, the cause of CdLS
In 2004, the news that “the” Cornelia de Lange Syndrome (CdLS) gene had been discovered was very much welcomed, following years of searching and many families donating blood samples towards this cause.
Now, many years later, the picture seems much more confusing. Despite the knowledge of the most recently reported fourth CdLS gene (HDAC8) and another closely related gene (RAD21), the percentage of people with CdLS having detectable changes (mutations) on testing remains under 70 percent, and the diagnosis is still made clinically. You may ask, “How can this be?”
Publications about Genetics
- CoDeLaGe: De SMC1A studie
- Genetic Variation within CdLS
- Genotype-Phenotype Correlations in Cornelia de Lange Syndrome
- A Journey, Not a Destination
- An Update on the Genetic Causes of CdLS
- We Already Have a CdLS Diagnosis...Why Follow Up With a Geneticist?
- A Closer Look at Genetics Follow Up: Micah
- A Closer Look at Genetic Testing: Claire
- A Closer Look at HDAC8: Cade
- A Closer Look at NIPBL: Maya
- A Closer Look at RAD21: Baylee
- A Closer Look at SMC1A: Katie
- A Closer Look at SMC3: Kinsley
- Genetic Testing and Your Family
- Gene Therapy
- “Influencing” Cornelia de Lange Syndrome?
More in depth information about Genetics
(from the international consensus statement)
- ¿Qué causa el SCdL?
- NIPBL
- SMC1A
- SMC3
- RAD21
- BRD4
- HDAC8
- ANKRD11
- Otros genes
- Mosaicismo
- Riesgo de recurrencia familiar
Failed to execute the [velocity] macro. Cause: [Index 1 out of bounds for length 1]. Click on this message for details.
org.xwiki.rendering.macro.MacroExecutionException: Failed to evaluate Velocity Macro for content [#template('tiles.vm')
#if($naviObject)
#displayTopicNavigation($naviObject)
#elseif($request.topic && $request.topic != '')
#set($thisTopicKey = $request.topic)
#if($request.displayer && $request.displayer != '')
#set($thisEntity = $request.displayer)
## some bug will present the same entity (stories) as either 'stories' (correct) or 'story' (wrong)
#if($thisEntity == 'story')
#set($thisEntity = 'stories' )
#end
#elseif($request.sheet == 'WaihonaCode.publicInfo.storyDisplayer')
#set($thisEntity = 'stories')
#elseif($doc.name == 'topicATEDisplayer')
#set($thisEntity = 'answers')
#else
#set($thisEntity = 'information')
#end
#if($request.article == 'detail')
#set($thisTypepage = 'page')
#else
#set($thisTypepage = 'index')
#end
#createNavigationObject($thisTopicKey $thisEntity $thisTypepage $naviObject)
#displayTopicNavigation($naviObject)
#end
#if($topicsBrowseObject) ## Show Topic Browser if requested by defining a topicBrowseObject
{{html clean=false wiki=false}}
<section id='Waihonapedia-published'>
<div class='container'>
<h2>$topicsBrowseObject.sectionHeader</h3>
#if($topicsBrowseObject.tileArray && $topicsBrowseObject.tileArray.size()>0)
<p>$topicsBrowseObject.sectionIntro</p>
<div class='wai-tile-container wai-topic-tiles'>
#showTiles($topicsBrowseObject.tileArray) ## from tiles.vm
</div>
#else
#template('browseTopicsMacros.vm')
#set($textInBaselineIntro = $services.localization.render('info.public.subtopics.intro', ["${thisService.name}","$diseaseTitle"]))
<p>$textInBaselineIntro</p>
<div class='wai-tile-container wai-topic-tiles'>
#showTopics($topicsBrowseObject.topicKey $topicsBrowseObject.serviceObject)
</div>
#end
</div>
</section>
{{/html}}
#end]
at org.xwiki.rendering.internal.macro.velocity.VelocityMacro.evaluateString(VelocityMacro.java:135)
at org.xwiki.rendering.internal.macro.velocity.VelocityMacro.evaluateString(VelocityMacro.java:51)
at org.xwiki.rendering.macro.script.AbstractScriptMacro.evaluateBlock(AbstractScriptMacro.java:279)
at org.xwiki.rendering.macro.script.AbstractScriptMacro.execute(AbstractScriptMacro.java:182)
at org.xwiki.rendering.macro.script.AbstractScriptMacro.execute(AbstractScriptMacro.java:58)
at org.xwiki.rendering.internal.transformation.macro.MacroTransformation.transform(MacroTransformation.java:309)
at org.xwiki.rendering.internal.transformation.DefaultRenderingContext.transformInContext(DefaultRenderingContext.java:183)
at org.xwiki.rendering.async.internal.block.AbstractBlockAsyncRenderer.transform(AbstractBlockAsyncRenderer.java:76)
at org.xwiki.rendering.async.internal.block.DefaultBlockAsyncRenderer.tranform(DefaultBlockAsyncRenderer.java:154)
at org.xwiki.rendering.async.internal.block.DefaultBlockAsyncRenderer.execute(DefaultBlockAsyncRenderer.java:137)
at org.xwiki.rendering.async.internal.block.AbstractBlockAsyncRenderer.render(AbstractBlockAsyncRenderer.java:157)
at org.xwiki.uiextension.internal.WikiUIExtension.render(WikiUIExtension.java:200)
at org.xwiki.rendering.async.internal.block.DefaultBlockAsyncRendererExecutor$DecoratorWrapper.render(DefaultBlockAsyncRendererExecutor.java:67)
at org.xwiki.rendering.async.internal.block.DefaultBlockAsyncRendererExecutor$DecoratorWrapper.render(DefaultBlockAsyncRendererExecutor.java:49)
at org.xwiki.rendering.async.internal.DefaultAsyncRendererExecutor.lambda$syncRender$0(DefaultAsyncRendererExecutor.java:284)
at com.xpn.xwiki.internal.security.authorization.DefaultAuthorExecutor.call(DefaultAuthorExecutor.java:98)
at org.xwiki.rendering.async.internal.DefaultAsyncRendererExecutor.syncRender(DefaultAsyncRendererExecutor.java:284)
at org.xwiki.rendering.async.internal.DefaultAsyncRendererExecutor.render(DefaultAsyncRendererExecutor.java:267)
at org.xwiki.rendering.async.internal.block.DefaultBlockAsyncRendererExecutor.execute(DefaultBlockAsyncRendererExecutor.java:125)
at org.xwiki.rendering.async.internal.block.DefaultBlockAsyncRendererExecutor.execute(DefaultBlockAsyncRendererExecutor.java:113)
at org.xwiki.uiextension.internal.AbstractWikiUIExtension.execute(AbstractWikiUIExtension.java:120)
at org.xwiki.uiextension.internal.AbstractWikiUIExtension.execute(AbstractWikiUIExtension.java:108)
at jdk.internal.reflect.GeneratedMethodAccessor466.invoke(Unknown Source)
at java.base/jdk.internal.reflect.DelegatingMethodAccessorImpl.invoke(DelegatingMethodAccessorImpl.java:43)
at java.base/java.lang.reflect.Method.invoke(Method.java:566)
at org.apache.velocity.util.introspection.UberspectImpl$VelMethodImpl.doInvoke(UberspectImpl.java:571)
at org.apache.velocity.util.introspection.UberspectImpl$VelMethodImpl.invoke(UberspectImpl.java:554)
at org.apache.velocity.runtime.parser.node.ASTMethod.execute(ASTMethod.java:221)
at org.apache.velocity.runtime.parser.node.ASTReference.execute(ASTReference.java:368)
at org.apache.velocity.runtime.parser.node.ASTReference.value(ASTReference.java:704)
at org.apache.velocity.runtime.parser.node.ASTExpression.value(ASTExpression.java:75)
at org.apache.velocity.runtime.parser.node.ASTMethod.execute(ASTMethod.java:167)
at org.apache.velocity.runtime.parser.node.ASTReference.execute(ASTReference.java:368)
at org.apache.velocity.runtime.parser.node.ASTReference.render(ASTReference.java:492)
at org.apache.velocity.runtime.parser.node.ASTBlock.render(ASTBlock.java:147)
at org.apache.velocity.runtime.directive.Foreach.renderBlock(Foreach.java:309)
at org.apache.velocity.runtime.directive.Foreach.render(Foreach.java:279)
at org.apache.velocity.runtime.parser.node.ASTDirective.render(ASTDirective.java:304)
at org.apache.velocity.runtime.parser.node.ASTBlock.render(ASTBlock.java:147)
at org.apache.velocity.runtime.parser.node.ASTIfStatement.render(ASTIfStatement.java:171)
at org.apache.velocity.runtime.parser.node.ASTBlock.render(ASTBlock.java:147)
at org.apache.velocity.runtime.parser.node.ASTIfStatement.render(ASTIfStatement.java:171)
at org.apache.velocity.runtime.parser.node.ASTBlock.render(ASTBlock.java:147)
at org.apache.velocity.runtime.parser.node.SimpleNode.render(SimpleNode.java:439)
at org.apache.velocity.runtime.parser.node.ASTIfStatement.render(ASTIfStatement.java:190)
at org.apache.velocity.runtime.parser.node.SimpleNode.render(SimpleNode.java:439)
at org.apache.velocity.Template.merge(Template.java:358)
at org.apache.velocity.Template.merge(Template.java:262)
at org.xwiki.velocity.internal.DefaultVelocityEngine.evaluate(DefaultVelocityEngine.java:280)
at com.xpn.xwiki.render.DefaultVelocityManager.evaluate(DefaultVelocityManager.java:328)
at com.xpn.xwiki.internal.template.VelocityTemplateEvaluator.evaluateContent(VelocityTemplateEvaluator.java:95)
at com.xpn.xwiki.internal.template.TemplateAsyncRenderer.evaluateContent(TemplateAsyncRenderer.java:222)
at com.xpn.xwiki.internal.template.TemplateAsyncRenderer.renderVelocity(TemplateAsyncRenderer.java:177)
at com.xpn.xwiki.internal.template.TemplateAsyncRenderer.render(TemplateAsyncRenderer.java:138)
at com.xpn.xwiki.internal.template.TemplateAsyncRenderer.render(TemplateAsyncRenderer.java:54)
at org.xwiki.rendering.async.internal.DefaultAsyncRendererExecutor.lambda$syncRender$0(DefaultAsyncRendererExecutor.java:284)
at com.xpn.xwiki.internal.security.authorization.DefaultAuthorExecutor.call(DefaultAuthorExecutor.java:98)
at org.xwiki.rendering.async.internal.DefaultAsyncRendererExecutor.syncRender(DefaultAsyncRendererExecutor.java:284)
at org.xwiki.rendering.async.internal.DefaultAsyncRendererExecutor.render(DefaultAsyncRendererExecutor.java:267)
at org.xwiki.rendering.async.internal.block.DefaultBlockAsyncRendererExecutor.render(DefaultBlockAsyncRendererExecutor.java:154)
at com.xpn.xwiki.internal.template.InternalTemplateManager.render(InternalTemplateManager.java:843)
at com.xpn.xwiki.internal.template.InternalTemplateManager.renderFromSkin(InternalTemplateManager.java:805)
at com.xpn.xwiki.internal.template.InternalTemplateManager.renderFromSkin(InternalTemplateManager.java:785)
at com.xpn.xwiki.internal.template.InternalTemplateManager.render(InternalTemplateManager.java:771)
at com.xpn.xwiki.internal.template.DefaultTemplateManager.render(DefaultTemplateManager.java:91)
at com.xpn.xwiki.internal.template.DefaultTemplateManager.render(DefaultTemplateManager.java:85)
at com.xpn.xwiki.XWiki.evaluateTemplate(XWiki.java:2563)
at com.xpn.xwiki.web.Utils.parseTemplate(Utils.java:180)
at com.xpn.xwiki.web.XWikiAction.execute(XWikiAction.java:651)
at com.xpn.xwiki.web.XWikiAction.execute(XWikiAction.java:339)
at com.xpn.xwiki.web.LegacyActionServlet.service(LegacyActionServlet.java:114)
at javax.servlet.http.HttpServlet.service(HttpServlet.java:764)
at org.apache.catalina.core.ApplicationFilterChain.internalDoFilter(ApplicationFilterChain.java:232)
at org.apache.catalina.core.ApplicationFilterChain.doFilter(ApplicationFilterChain.java:167)
at com.xpn.xwiki.web.ActionFilter.doFilter(ActionFilter.java:122)
at org.apache.catalina.core.ApplicationFilterChain.internalDoFilter(ApplicationFilterChain.java:194)
at org.apache.catalina.core.ApplicationFilterChain.doFilter(ApplicationFilterChain.java:167)
at org.xwiki.wysiwyg.filter.ConversionFilter.doFilter(ConversionFilter.java:61)
at org.apache.catalina.core.ApplicationFilterChain.internalDoFilter(ApplicationFilterChain.java:194)
at org.apache.catalina.core.ApplicationFilterChain.doFilter(ApplicationFilterChain.java:167)
at org.apache.tomcat.websocket.server.WsFilter.doFilter(WsFilter.java:52)
at org.apache.catalina.core.ApplicationFilterChain.internalDoFilter(ApplicationFilterChain.java:194)
at org.apache.catalina.core.ApplicationFilterChain.doFilter(ApplicationFilterChain.java:167)
at org.xwiki.container.servlet.filters.internal.SetHTTPHeaderFilter.doFilter(SetHTTPHeaderFilter.java:63)
at org.apache.catalina.core.ApplicationFilterChain.internalDoFilter(ApplicationFilterChain.java:194)
at org.apache.catalina.core.ApplicationFilterChain.doFilter(ApplicationFilterChain.java:167)
at org.xwiki.resource.servlet.RoutingFilter.doFilter(RoutingFilter.java:132)
at org.apache.catalina.core.ApplicationFilterChain.internalDoFilter(ApplicationFilterChain.java:194)
at org.apache.catalina.core.ApplicationFilterChain.doFilter(ApplicationFilterChain.java:167)
at org.xwiki.container.servlet.filters.internal.SavedRequestRestorerFilter.doFilter(SavedRequestRestorerFilter.java:208)
at org.apache.catalina.core.ApplicationFilterChain.internalDoFilter(ApplicationFilterChain.java:194)
at org.apache.catalina.core.ApplicationFilterChain.doFilter(ApplicationFilterChain.java:167)
at org.xwiki.container.servlet.filters.internal.SetCharacterEncodingFilter.doFilter(SetCharacterEncodingFilter.java:111)
at org.apache.catalina.core.ApplicationFilterChain.internalDoFilter(ApplicationFilterChain.java:194)
at org.apache.catalina.core.ApplicationFilterChain.doFilter(ApplicationFilterChain.java:167)
at org.apache.catalina.core.StandardWrapperValve.invoke(StandardWrapperValve.java:202)
at org.apache.catalina.core.StandardContextValve.invoke(StandardContextValve.java:97)
at org.apache.catalina.authenticator.AuthenticatorBase.invoke(AuthenticatorBase.java:544)
at org.apache.catalina.core.StandardHostValve.invoke(StandardHostValve.java:143)
at org.apache.catalina.valves.ErrorReportValve.invoke(ErrorReportValve.java:81)
at org.apache.catalina.valves.AbstractAccessLogValve.invoke(AbstractAccessLogValve.java:698)
at org.apache.catalina.core.StandardEngineValve.invoke(StandardEngineValve.java:78)
at org.apache.catalina.connector.CoyoteAdapter.service(CoyoteAdapter.java:364)
at org.apache.coyote.http11.Http11Processor.service(Http11Processor.java:624)
at org.apache.coyote.AbstractProcessorLight.process(AbstractProcessorLight.java:65)
at org.apache.coyote.AbstractProtocol$ConnectionHandler.process(AbstractProtocol.java:831)
at org.apache.tomcat.util.net.NioEndpoint$SocketProcessor.doRun(NioEndpoint.java:1651)
at org.apache.tomcat.util.net.SocketProcessorBase.run(SocketProcessorBase.java:49)
at java.base/java.util.concurrent.ThreadPoolExecutor.runWorker(ThreadPoolExecutor.java:1128)
at java.base/java.util.concurrent.ThreadPoolExecutor$Worker.run(ThreadPoolExecutor.java:628)
at org.apache.tomcat.util.threads.TaskThread$WrappingRunnable.run(TaskThread.java:61)
at java.base/java.lang.Thread.run(Thread.java:829)
Caused by: org.xwiki.velocity.XWikiVelocityException: Failed to evaluate content with namespace [xwiki:WaihonaBase.uixCollections.contentFooter.uixWaiContentFooter^XWiki.UIExtensionClass[3]]
at org.xwiki.velocity.internal.DefaultVelocityEngine.evaluate(DefaultVelocityEngine.java:289)
at com.xpn.xwiki.render.DefaultVelocityManager.evaluate(DefaultVelocityManager.java:328)
at org.xwiki.rendering.internal.macro.velocity.VelocityMacro.evaluateString(VelocityMacro.java:127)
... 111 more
Caused by: org.apache.velocity.exception.VelocityException: Error invoking method 'get(java.lang.Integer)' in java.util.ArrayList at xwiki:WaihonaBase.uixCollections.contentFooter.uixWaiContentFooter^XWiki.UIExtensionClass[3][line 534, column 46]
at org.apache.velocity.runtime.parser.node.ASTIndex.execute(ASTIndex.java:221)
at org.apache.velocity.runtime.parser.node.ASTReference.execute(ASTReference.java:368)
at org.apache.velocity.runtime.parser.node.ASTReference.value(ASTReference.java:704)
at org.apache.velocity.runtime.parser.node.ASTExpression.value(ASTExpression.java:75)
at org.apache.velocity.runtime.parser.node.ASTSetDirective.render(ASTSetDirective.java:242)
at org.apache.velocity.runtime.parser.node.ASTBlock.render(ASTBlock.java:147)
at org.apache.velocity.runtime.parser.node.ASTIfStatement.render(ASTIfStatement.java:171)
at org.apache.velocity.runtime.parser.node.ASTBlock.render(ASTBlock.java:147)
at org.apache.velocity.runtime.parser.node.ASTIfStatement.render(ASTIfStatement.java:171)
at org.apache.velocity.runtime.parser.node.ASTBlock.render(ASTBlock.java:147)
at org.apache.velocity.runtime.directive.VelocimacroProxy.render(VelocimacroProxy.java:218)
at org.apache.velocity.runtime.directive.RuntimeMacro.render(RuntimeMacro.java:331)
at org.apache.velocity.runtime.directive.RuntimeMacro.render(RuntimeMacro.java:261)
at org.apache.velocity.runtime.parser.node.ASTDirective.render(ASTDirective.java:304)
at org.apache.velocity.runtime.parser.node.ASTBlock.render(ASTBlock.java:147)
at org.apache.velocity.runtime.parser.node.ASTElseIfStatement.render(ASTElseIfStatement.java:108)
at org.apache.velocity.runtime.parser.node.ASTIfStatement.render(ASTIfStatement.java:190)
at org.apache.velocity.runtime.parser.node.SimpleNode.render(SimpleNode.java:439)
at org.apache.velocity.Template.merge(Template.java:358)
at org.apache.velocity.Template.merge(Template.java:262)
at org.xwiki.velocity.internal.DefaultVelocityEngine.evaluate(DefaultVelocityEngine.java:280)
... 113 more
Caused by: java.lang.reflect.InvocationTargetException
at java.base/jdk.internal.reflect.GeneratedMethodAccessor548.invoke(Unknown Source)
at java.base/jdk.internal.reflect.DelegatingMethodAccessorImpl.invoke(DelegatingMethodAccessorImpl.java:43)
at java.base/java.lang.reflect.Method.invoke(Method.java:566)
at org.apache.velocity.util.introspection.UberspectImpl$VelMethodImpl.doInvoke(UberspectImpl.java:571)
at org.apache.velocity.util.introspection.UberspectImpl$VelMethodImpl.invoke(UberspectImpl.java:554)
at org.apache.velocity.runtime.parser.node.ASTIndex.execute(ASTIndex.java:195)
... 133 more
Caused by: java.lang.IndexOutOfBoundsException: Index 1 out of bounds for length 1
at java.base/jdk.internal.util.Preconditions.outOfBounds(Preconditions.java:64)
at java.base/jdk.internal.util.Preconditions.outOfBoundsCheckIndex(Preconditions.java:70)
at java.base/jdk.internal.util.Preconditions.checkIndex(Preconditions.java:248)
at java.base/java.util.Objects.checkIndex(Objects.java:374)
at java.base/java.util.ArrayList.get(ArrayList.java:459)
... 139 more
Sobre el contenido del sitio web
Toda la información contenida en este sitio web tiene únicamente fines educativos. El lugar para obtener consejos médicos específicos, diagnósticos y tratamientos es su médico. El uso de este sitio es estrictamente bajo su propio riesgo. Si encuentra algo que cree que necesita ser corregido o aclarado, por favor háganoslo saber en:
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