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)
- What causes Cornelia de Lange Syndrome
- NIPBL
- SMC1A
- SMC3
- RAD21
- BRD4
- HDAC8
- ANKRD11
- Other genes
- Mosaicism
- Family Recurrence Risk
Das Makro [velocity] konnte nicht ausgeführt werden. Grund: [Index 1 out of bounds for length 1]. Klicke auf diese Nachricht, um Details zu erfahren.
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
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